Canonical Allele Identifier: CA13416633
Gene: MADD HGNC NCBI

Linked Data

dbSNP Id: rs10501320
gnomAD v2: 11-47293799-G-C
gnomAD v3: 11-47272248-G-C
gnomAD v4: 11-47272248-G-C
MyVariant Identifiers: chr11:g.47293799G>C (hg19) chr11:g.47272248G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47272248G>C , CM000673.2:g.47272248G>C GRCh38
NC_000011.9:g.47293799G>C , CM000673.1:g.47293799G>C GRCh37
NC_000011.8:g.47250375G>C NCBI36
NG_029462.1:g.7873G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000526603.6:c.-143+2002G>C ENSP00000516603.1:n.-143+2002G>C
ENST00000634938.2:c.-88-1579G>C ENSP00000489300.2:n.-88-1579G>C
ENST00000706886.1:c.-88-1579G>C ENSP00000516602.1:n.-88-1579G>C
ENST00000706887.1:c.-88-1579G>C MANE Select ENSP00000516604.1:n.-88-1579G>C
ENST00000706888.1:c.-88-1579G>C ENSP00000516605.1:n.-88-1579G>C
ENST00000706889.1:c.-88-1579G>C ENSP00000516606.1:n.-88-1579G>C
ENST00000706890.1:c.-88-1579G>C ENSP00000516607.1:n.-88-1579G>C
ENST00000706891.1:c.-143+2002G>C ENSP00000516608.1:n.-143+2002G>C
ENST00000311027.9:c.-88-1579G>C ENSP00000310933.4:n.-88-1579G>C
ENST00000342922.8:c.-88-1579G>C ENSP00000343902.4:n.-88-1579G>C
ENST00000349238.7:c.-88-1579G>C ENSP00000304505.6:n.-88-1579G>C
ENST00000395336.7:c.-88-1579G>C ENSP00000378745.3:n.-88-1579G>C
ENST00000395344.7:c.-88-1579G>C ENSP00000378753.3:n.-88-1579G>C
ENST00000402192.6:c.-88-1579G>C ENSP00000384287.2:n.-88-1579G>C
ENST00000402799.5:c.-88-1579G>C ENSP00000385585.1:n.-88-1579G>C
ENST00000406482.5:c.-88-1579G>C ENSP00000384435.1:n.-88-1579G>C
ENST00000407859.7:c.-88-1579G>C ENSP00000384204.3:n.-88-1579G>C
ENST00000422579.1:c.-171G>C ENSP00000402364.1:n.-171G>C
ENST00000428807.5:c.-8+2498G>C ENSP00000398167.1:n.-8+2498G>C
ENST00000444117.5:c.-88-1579G>C ENSP00000413116.1:n.-88-1579G>C
ENST00000453571.5:c.-88-1579G>C ENSP00000388255.1:n.-88-1579G>C
ENST00000526603.5:n.91+2002G>C
ENST00000534808.1:n.75-2315G>C
NM_001135943.1:c.-88-1579G>C NP_001129415.1:n.-88-1579G>C
NM_001135944.1:c.-88-1579G>C NP_001129416.1:n.-88-1579G>C
NM_003682.3:c.-88-1579G>C NP_003673.3:n.-88-1579G>C
NM_130470.2:c.-88-1579G>C NP_569826.2:n.-88-1579G>C
NM_130471.2:c.-88-1579G>C NP_569827.2:n.-88-1579G>C
NM_130472.2:c.-88-1579G>C NP_569828.2:n.-88-1579G>C
NM_130473.2:c.-88-1579G>C NP_569829.2:n.-88-1579G>C
NM_130474.2:c.-88-1579G>C NP_569830.2:n.-88-1579G>C
NM_130475.2:c.-88-1579G>C NP_569831.1:n.-88-1579G>C
NM_130476.2:c.-88-1579G>C NP_569832.2:n.-88-1579G>C
XM_005253188.1:c.-88-1579G>C XP_005253245.1:n.-88-1579G>C
XM_005253189.1:c.-88-1579G>C XP_005253246.1:n.-88-1579G>C
XM_005253190.1:c.-88-1579G>C XP_005253247.1:n.-88-1579G>C
XM_005253191.1:c.-88-1579G>C XP_005253248.1:n.-88-1579G>C
XM_005253192.1:c.-88-1579G>C XP_005253249.1:n.-88-1579G>C
XM_005253193.1:c.-88-1579G>C XP_005253250.1:n.-88-1579G>C
XM_005253194.1:c.-88-1579G>C XP_005253251.1:n.-88-1579G>C
XM_005253195.1:c.-88-1579G>C XP_005253252.1:n.-88-1579G>C
XM_005253196.1:c.-88-1579G>C XP_005253253.1:n.-88-1579G>C
XM_005253197.1:c.-88-1579G>C XP_005253254.1:n.-88-1579G>C
XM_005253198.1:c.-88-1579G>C XP_005253255.1:n.-88-1579G>C
XM_005253199.1:c.-88-1579G>C XP_005253256.1:n.-88-1579G>C
XM_005253200.1:c.-88-1579G>C XP_005253257.1:n.-88-1579G>C
XM_005253201.1:c.-88-1579G>C XP_005253258.1:n.-88-1579G>C
XM_005253202.1:c.-88-1579G>C XP_005253259.1:n.-88-1579G>C
XM_005253203.1:c.-88-1579G>C XP_005253260.1:n.-88-1579G>C
XM_005253204.1:c.-88-1579G>C XP_005253261.1:n.-88-1579G>C
XM_005253205.1:c.-88-1579G>C XP_005253262.1:n.-88-1579G>C
XM_005253206.2:c.-88-1579G>C XP_005253263.1:n.-88-1579G>C
XM_006718360.1:c.-88-1579G>C XP_006718423.1:n.-88-1579G>C
XM_006718361.1:c.-88-1579G>C XP_006718424.1:n.-88-1579G>C
XM_006718362.1:c.-88-1579G>C XP_006718425.1:n.-88-1579G>C
XM_006718363.1:c.-88-1579G>C XP_006718426.1:n.-88-1579G>C
XM_011520428.1:c.-88-1579G>C XP_011518730.1:n.-88-1579G>C
XM_011520429.1:c.-88-1579G>C XP_011518731.1:n.-88-1579G>C
XM_011520430.1:c.-88-1579G>C XP_011518732.1:n.-88-1579G>C
XM_011520431.1:c.-88-1579G>C XP_011518733.1:n.-88-1579G>C
XM_011520432.1:c.-171G>C XP_011518734.1:n.-171G>C
XM_011520433.1:c.-88-1579G>C XP_011518735.1:n.-88-1579G>C
XM_011520434.1:c.-88-1579G>C XP_011518736.1:n.-88-1579G>C
XM_011520435.1:c.-88-1579G>C XP_011518737.1:n.-88-1579G>C
XM_011520436.1:c.-88-1579G>C XP_011518738.1:n.-88-1579G>C
XM_011520437.1:c.-88-1579G>C XP_011518739.1:n.-88-1579G>C
XM_011520438.1:c.-88-1579G>C XP_011518740.1:n.-88-1579G>C
XM_011520439.1:c.-88-1579G>C XP_011518741.1:n.-88-1579G>C
XM_011520440.1:c.-142-2315G>C XP_011518742.1:n.-142-2315G>C
XR_242830.1:n.128-1579G>C
XR_930922.1:n.128-1579G>C
XM_005253189.3:c.-88-1579G>C XP_005253246.1:n.-88-1579G>C
XM_005253196.3:c.-88-1579G>C XP_005253253.1:n.-88-1579G>C
XM_005253199.3:c.-88-1579G>C XP_005253256.1:n.-88-1579G>C
XM_005253200.2:c.-88-1579G>C XP_005253257.1:n.-88-1579G>C
XM_005253201.3:c.-88-1579G>C XP_005253258.1:n.-88-1579G>C
XM_005253203.3:c.-88-1579G>C XP_005253260.1:n.-88-1579G>C
XM_005253204.3:c.-88-1579G>C XP_005253261.1:n.-88-1579G>C
XM_005253205.2:c.-88-1579G>C XP_005253262.1:n.-88-1579G>C
XM_017018478.2:c.-88-1579G>C XP_016873967.1:n.-88-1579G>C
XM_017018479.2:c.-88-1579G>C XP_016873968.1:n.-88-1579G>C
XM_017018480.2:c.-88-1579G>C XP_016873969.1:n.-88-1579G>C
XM_017018481.1:c.-88-1579G>C XP_016873970.1:n.-88-1579G>C
XM_017018482.2:c.-88-1579G>C XP_016873971.1:n.-88-1579G>C
XM_017018483.2:c.-88-1579G>C XP_016873972.1:n.-88-1579G>C
XM_017018484.2:c.-88-1579G>C XP_016873973.1:n.-88-1579G>C
XM_017018485.2:c.-88-1579G>C XP_016873974.1:n.-88-1579G>C
XM_017018486.2:c.-88-1579G>C XP_016873975.1:n.-88-1579G>C
XM_017018487.2:c.-88-1579G>C XP_016873976.1:n.-88-1579G>C
XM_017018488.1:c.-88-1579G>C XP_016873977.1:n.-88-1579G>C
XM_017018489.1:c.-88-1579G>C XP_016873978.1:n.-88-1579G>C
XM_017018490.1:c.-88-1579G>C XP_016873979.1:n.-88-1579G>C
XM_017018491.2:c.-88-1579G>C XP_016873980.1:n.-88-1579G>C
XM_017018492.1:c.-88-1579G>C XP_016873981.1:n.-88-1579G>C
XM_017018493.1:c.-88-1579G>C XP_016873982.1:n.-88-1579G>C
XM_017018498.1:c.-88-1579G>C XP_016873987.1:n.-88-1579G>C
XM_017018499.1:c.-88-1579G>C XP_016873988.1:n.-88-1579G>C
XM_017018500.1:c.-88-1579G>C XP_016873989.1:n.-88-1579G>C
XM_017018505.2:c.-88-1579G>C XP_016873994.1:n.-88-1579G>C
XM_017018506.1:c.-88-1579G>C XP_016873995.1:n.-88-1579G>C
XM_017018507.1:c.-88-1579G>C XP_016873996.1:n.-88-1579G>C
XM_024448745.1:c.-88-1579G>C XP_024304513.1:n.-88-1579G>C
XM_024448746.1:c.-88-1579G>C XP_024304514.1:n.-88-1579G>C
XM_024448747.1:c.-88-1579G>C XP_024304515.1:n.-88-1579G>C
XM_024448748.1:c.-88-1579G>C XP_024304516.1:n.-88-1579G>C
XM_024448749.1:c.-88-1579G>C XP_024304517.1:n.-88-1579G>C
XM_024448750.1:c.-88-1579G>C XP_024304518.1:n.-88-1579G>C
XM_024448751.1:c.-88-1579G>C XP_024304519.1:n.-88-1579G>C
XM_024448752.1:c.-88-1579G>C XP_024304520.1:n.-88-1579G>C
XM_024448753.1:c.-88-1579G>C XP_024304521.1:n.-88-1579G>C
XM_024448754.1:c.-88-1579G>C XP_024304522.1:n.-88-1579G>C
XM_024448755.1:c.-88-1579G>C XP_024304523.1:n.-88-1579G>C
NM_001135943.2:c.-88-1579G>C NP_001129415.1:n.-88-1579G>C
NM_001135944.2:c.-88-1579G>C NP_001129416.1:n.-88-1579G>C
NM_001376571.1:c.-88-1579G>C MANE Select NP_001363500.1:n.-88-1579G>C
NM_001376572.1:c.-88-1579G>C NP_001363501.1:n.-88-1579G>C
NM_001376573.1:c.-88-1579G>C NP_001363502.1:n.-88-1579G>C
NM_001376574.1:c.-88-1579G>C NP_001363503.1:n.-88-1579G>C
NM_001376575.1:c.-88-1579G>C NP_001363504.1:n.-88-1579G>C
NM_001376576.1:c.-88-1579G>C NP_001363505.1:n.-88-1579G>C
NM_001376577.1:c.-88-1579G>C NP_001363506.1:n.-88-1579G>C
NM_001376578.1:c.-88-1579G>C NP_001363507.1:n.-88-1579G>C
NM_001376579.1:c.-88-1579G>C NP_001363508.1:n.-88-1579G>C
NM_001376580.1:c.-88-1579G>C NP_001363509.1:n.-88-1579G>C
NM_001376581.1:c.-88-1579G>C NP_001363510.1:n.-88-1579G>C
NM_001376582.1:c.-88-1579G>C NP_001363511.1:n.-88-1579G>C
NM_001376583.1:c.-88-1579G>C NP_001363512.1:n.-88-1579G>C
NM_001376584.1:c.-88-1579G>C NP_001363513.1:n.-88-1579G>C
NM_001376585.1:c.-88-1579G>C NP_001363514.1:n.-88-1579G>C
NM_001376586.1:c.-88-1579G>C NP_001363515.1:n.-88-1579G>C
NM_001376593.1:c.-88-1579G>C NP_001363522.1:n.-88-1579G>C
NM_001376594.1:c.-88-1579G>C NP_001363523.1:n.-88-1579G>C
NM_001376595.1:c.-88-1579G>C NP_001363524.1:n.-88-1579G>C
NM_001376596.1:c.-88-1579G>C NP_001363525.1:n.-88-1579G>C
NM_001376597.1:c.-88-1579G>C NP_001363526.1:n.-88-1579G>C
NM_001376598.1:c.-88-1579G>C NP_001363527.1:n.-88-1579G>C
NM_001376599.1:c.-88-1579G>C NP_001363528.1:n.-88-1579G>C
NM_001376600.1:c.-88-1579G>C NP_001363529.1:n.-88-1579G>C
NM_001376601.1:c.-89+1006G>C NP_001363530.1:n.-89+1006G>C
NM_001376602.1:c.-88-1579G>C NP_001363531.1:n.-88-1579G>C
NM_001376603.1:c.-88-1579G>C NP_001363532.1:n.-88-1579G>C
NM_001376604.1:c.-88-1579G>C NP_001363533.1:n.-88-1579G>C
NM_001376605.1:c.-88-1579G>C NP_001363534.1:n.-88-1579G>C
NM_001376606.1:c.-88-1579G>C NP_001363535.1:n.-88-1579G>C
NM_001376607.1:c.-88-1579G>C NP_001363536.1:n.-88-1579G>C
NM_001376608.1:c.-88-1579G>C NP_001363537.1:n.-88-1579G>C
NM_001376609.1:c.-88-1579G>C NP_001363538.1:n.-88-1579G>C
NM_001376610.1:c.-88-1579G>C NP_001363539.1:n.-88-1579G>C
NM_001376611.1:c.-88-1579G>C NP_001363540.1:n.-88-1579G>C
NM_001376612.1:c.-88-1579G>C NP_001363541.1:n.-88-1579G>C
NM_001376613.1:c.-88-1579G>C NP_001363542.1:n.-88-1579G>C
NM_001376614.1:c.-88-1579G>C NP_001363543.1:n.-88-1579G>C
NM_001376615.1:c.-88-1579G>C NP_001363544.1:n.-88-1579G>C
NM_001376616.1:c.-88-1579G>C NP_001363545.1:n.-88-1579G>C
NM_001376617.1:c.-88-1579G>C NP_001363546.1:n.-88-1579G>C
NM_001376618.1:c.-88-1579G>C NP_001363547.1:n.-88-1579G>C
NM_001376619.1:c.-88-1579G>C NP_001363548.1:n.-88-1579G>C
NM_001376620.1:c.-142-2315G>C NP_001363549.1:n.-142-2315G>C
NM_001376621.1:c.-88-1579G>C NP_001363550.1:n.-88-1579G>C
NM_001376622.1:c.-88-1579G>C NP_001363551.1:n.-88-1579G>C
NM_001376623.1:c.-88-1579G>C NP_001363552.1:n.-88-1579G>C
NM_001376624.1:c.-88-1579G>C NP_001363553.1:n.-88-1579G>C
NM_001376625.1:c.-88-1579G>C NP_001363554.1:n.-88-1579G>C
NM_001376626.1:c.-143+2002G>C NP_001363555.1:n.-143+2002G>C
NM_001376627.1:c.-143+2002G>C NP_001363556.1:n.-143+2002G>C
NM_001376628.1:c.-88-1579G>C NP_001363557.1:n.-88-1579G>C
NM_001376629.1:c.-88-1579G>C NP_001363558.1:n.-88-1579G>C
NM_001376630.1:c.-88-1579G>C NP_001363559.1:n.-88-1579G>C
NM_001376631.1:c.-88-1579G>C NP_001363560.1:n.-88-1579G>C
NM_001376632.1:c.-88-1579G>C NP_001363561.1:n.-88-1579G>C
NM_001376633.1:c.-88-1579G>C NP_001363562.1:n.-88-1579G>C
NM_001376634.1:c.-88-1579G>C NP_001363563.1:n.-88-1579G>C
NM_001376635.1:c.-143+2002G>C NP_001363564.1:n.-143+2002G>C
NM_001376636.1:c.-88-1579G>C NP_001363565.1:n.-88-1579G>C
NM_001376637.1:c.-88-1579G>C NP_001363566.1:n.-88-1579G>C
NM_001376638.1:c.-88-1579G>C NP_001363567.1:n.-88-1579G>C
NM_001376639.1:c.-88-1579G>C NP_001363568.1:n.-88-1579G>C
NM_001376640.1:c.-88-1579G>C NP_001363569.1:n.-88-1579G>C
NM_001376641.1:c.-88-1579G>C NP_001363570.1:n.-88-1579G>C
NM_001376642.1:c.-88-1579G>C NP_001363571.1:n.-88-1579G>C
NM_001376643.1:c.-88-1579G>C NP_001363572.1:n.-88-1579G>C
NM_001376644.1:c.-143+2002G>C NP_001363573.1:n.-143+2002G>C
NM_001376645.1:c.-88-1579G>C NP_001363574.1:n.-88-1579G>C
NM_001376646.1:c.-143+2002G>C NP_001363575.1:n.-143+2002G>C
NM_001376647.1:c.-143+2002G>C NP_001363576.1:n.-143+2002G>C
NM_001376648.1:c.-142-2315G>C NP_001363577.1:n.-142-2315G>C
NM_001376649.1:c.-88-1579G>C NP_001363578.1:n.-88-1579G>C
NM_001376650.1:c.-88-1579G>C NP_001363579.1:n.-88-1579G>C
NM_001376651.1:c.-88-1579G>C NP_001363580.1:n.-88-1579G>C
NM_001376652.1:c.-88-1579G>C NP_001363581.1:n.-88-1579G>C
NM_001376653.1:c.-88-1579G>C NP_001363582.1:n.-88-1579G>C
NM_001376654.1:c.-143+2002G>C NP_001363583.1:n.-143+2002G>C
NM_001376655.1:c.-88-1579G>C NP_001363584.1:n.-88-1579G>C
NM_001376656.1:c.-88-1579G>C NP_001363585.1:n.-88-1579G>C
NM_001376657.1:c.-143+2002G>C NP_001363586.1:n.-143+2002G>C
NM_001376658.1:c.-88-1579G>C NP_001363587.1:n.-88-1579G>C
NM_001376659.1:c.-143+2002G>C NP_001363588.1:n.-143+2002G>C
NM_001376660.1:c.-143+2002G>C NP_001363589.1:n.-143+2002G>C
NM_001376661.1:c.-88-1579G>C NP_001363590.1:n.-88-1579G>C
NM_001376662.1:c.-88-1579G>C NP_001363591.1:n.-88-1579G>C
NM_001376663.1:c.-8+2002G>C NP_001363592.1:n.-8+2002G>C
NM_003682.4:c.-88-1579G>C NP_003673.3:n.-88-1579G>C
NM_130470.3:c.-88-1579G>C NP_569826.2:n.-88-1579G>C
NM_130471.3:c.-88-1579G>C NP_569827.2:n.-88-1579G>C
NM_130472.3:c.-88-1579G>C NP_569828.2:n.-88-1579G>C
NM_130473.3:c.-88-1579G>C NP_569829.2:n.-88-1579G>C
NM_130474.3:c.-88-1579G>C NP_569830.2:n.-88-1579G>C
NM_130475.3:c.-88-1579G>C NP_569831.1:n.-88-1579G>C
NM_130476.3:c.-88-1579G>C NP_569832.2:n.-88-1579G>C
NR_164835.1:n.115-1579G>C
NR_164836.1:n.115-1579G>C
NR_164837.1:n.115-1579G>C
NR_164838.1:n.114+2002G>C
NR_164839.1:n.115-1579G>C
NR_164840.1:n.115-1579G>C
NR_164841.1:n.115-1579G>C
NR_164842.1:n.115-1579G>C
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