Canonical Allele Identifier: CA16605906
Gene: PAX6 HGNC NCBI
ELP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 379272
ClinVar RCV Id: RCV000436289
dbSNP Id: rs1057520551
MyVariant Identifiers: chr11:g.31811569T>C (hg19) chr11:g.31790021T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31790021T>C , CM000673.2:g.31790021T>C GRCh38
NC_000011.9:g.31811569T>C , CM000673.1:g.31811569T>C GRCh37
NC_000011.8:g.31768145T>C NCBI36
NG_008679.1:g.32941A>G , LRG_720:g.32941A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000241001.13:c.1184-2A>G (PAX6) ENSP00000241001.8:n.1184-2A>G
ENST00000379107.7:c.1226-2A>G (PAX6) ENSP00000368401.2:n.1226-2A>G
ENST00000379109.7:c.1184-2A>G (PAX6) ENSP00000368403.2:n.1184-2A>G
ENST00000379111.7:c.1184-2A>G (PAX6) ENSP00000368406.3:n.1184-2A>G
ENST00000379123.10:c.776-2A>G (PAX6) ENSP00000368418.6:n.776-2A>G
ENST00000379129.7:c.1226-2A>G (PAX6) ENSP00000368424.2:n.1226-2A>G
ENST00000379132.8:c.1184-2A>G (PAX6) ENSP00000368427.2:n.1184-2A>G
ENST00000419022.6:c.1226-2A>G (PAX6) ENSP00000404100.1:n.1226-2A>G
ENST00000423822.7:c.1025-2A>G (PAX6) ENSP00000388132.3:n.1025-2A>G
ENST00000464174.6:n.774-2A>G (PAX6)
ENST00000470027.7:n.3504-2A>G (PAX6)
ENST00000471303.6:n.2350-2A>G (PAX6)
ENST00000474783.2:n.4291-2A>G (PAX6)
ENST00000481563.6:c.776-2A>G (PAX6) ENSP00000492205.1:n.776-2A>G
ENST00000494377.7:n.1839-2A>G (PAX6)
ENST00000524853.6:c.1184-2A>G (PAX6) ENSP00000431585.2:n.1184-2A>G
ENST00000606377.7:c.1226-2A>G (PAX6) ENSP00000480026.1:n.1226-2A>G
ENST00000638250.1:c.776-2A>G (PAX6) ENSP00000491365.1:n.776-2A>G
ENST00000638346.1:c.776-2A>G (PAX6) ENSP00000491267.1:n.776-2A>G
ENST00000638629.1:c.776-2A>G (PAX6) ENSP00000490971.1:n.776-2A>G
ENST00000638685.1:c.520-2A>G (PAX6) ENSP00000492316.1:n.520-2A>G
ENST00000638696.1:c.1118-2A>G (PAX6) ENSP00000492756.1:n.1118-2A>G
ENST00000638755.1:c.1076-2A>G (PAX6) ENSP00000492181.1:n.1076-2A>G
ENST00000638802.1:c.776-2A>G (PAX6) ENSP00000492437.1:n.776-2A>G
ENST00000638853.1:c.776-2A>G (PAX6) ENSP00000491280.1:n.776-2A>G
ENST00000638913.1:n.2333-2A>G (PAX6)
ENST00000638914.3:c.1226-2A>G (PAX6) ENSP00000492315.2:n.1226-2A>G
ENST00000638963.1:c.1033-2A>G (PAX6) ENSP00000491948.1:n.1033-2A>G
ENST00000638965.1:c.581-2A>G (PAX6) ENSP00000492769.1:n.581-2A>G
ENST00000639061.1:c.776-2A>G (PAX6) ENSP00000491324.1:n.776-2A>G
ENST00000639109.1:c.776-2A>G (PAX6) ENSP00000491904.1:n.776-2A>G
ENST00000639386.2:c.776-2A>G (PAX6) ENSP00000492658.1:n.776-2A>G
ENST00000639394.1:c.*1065-2A>G (PAX6) ENSP00000492177.1:n.*1065-2A>G
ENST00000639409.1:c.1226-2A>G (PAX6) ENSP00000492476.1:n.1226-2A>G
ENST00000639548.1:c.776-2A>G (PAX6) ENSP00000491944.1:n.776-2A>G
ENST00000639916.1:c.1184-2A>G (PAX6) ENSP00000490963.1:n.1184-2A>G
ENST00000639950.1:c.1184-2A>G (PAX6) ENSP00000491862.1:n.1184-2A>G
ENST00000640038.1:n.711-2A>G (PAX6)
ENST00000640125.1:c.776-2A>G (PAX6) ENSP00000492166.1:n.776-2A>G
ENST00000640287.1:c.1184-2A>G (PAX6) ENSP00000492822.1:n.1184-2A>G
ENST00000640368.2:c.1226-2A>G (PAX6) MANE Select ENSP00000492024.1:n.1226-2A>G
ENST00000640460.1:c.1184-2A>G (PAX6) ENSP00000492802.1:n.1184-2A>G
ENST00000640610.1:c.1184-2A>G (PAX6) ENSP00000491295.1:n.1184-2A>G
ENST00000640613.1:c.1025-2A>G (PAX6) ENSP00000492587.1:n.1025-2A>G
ENST00000640735.1:n.2003-2A>G (PAX6)
ENST00000640766.1:c.776-2A>G (PAX6) ENSP00000491214.1:n.776-2A>G
ENST00000640872.1:c.776-2A>G (PAX6) ENSP00000491065.1:n.776-2A>G
ENST00000640961.2:c.*6497T>C (ELP4) MANE Select ENSP00000492152.1:n.*6497T>C
ENST00000640963.1:c.1075-2A>G (PAX6) ENSP00000492397.1:n.1075-2A>G
ENST00000640975.1:c.1226-2A>G (PAX6) ENSP00000491872.1:n.1226-2A>G
ENST00000643871.1:c.1184-2A>G (PAX6) ENSP00000495109.1:n.1184-2A>G
ENST00000241001.12:c.1184-2A>G (PAX6) ENSP00000241001.8:n.1184-2A>G
ENST00000379107.6:c.1226-2A>G (PAX6) ENSP00000368401.2:n.1226-2A>G
ENST00000379109.6:c.1184-2A>G (PAX6) ENSP00000368403.2:n.1184-2A>G
ENST00000379111.6:c.1184-2A>G (PAX6) ENSP00000368406.2:n.1184-2A>G
ENST00000379115.8:c.1226-2A>G (PAX6) ENSP00000368410.4:n.1226-2A>G
ENST00000379123.9:c.1184-2A>G (PAX6) ENSP00000368418.5:n.1184-2A>G
ENST00000379129.6:c.1226-2A>G (PAX6) ENSP00000368424.2:n.1226-2A>G
ENST00000379132.7:c.1184-2A>G (PAX6) ENSP00000368427.2:n.1184-2A>G
ENST00000419022.5:c.1226-2A>G (PAX6) ENSP00000404100.1:n.1226-2A>G
ENST00000464174.5:n.790-2A>G (PAX6)
ENST00000470027.6:n.2759-2A>G (PAX6)
ENST00000474783.1:n.601-2A>G (PAX6)
ENST00000494377.6:n.2377-2A>G (PAX6)
ENST00000533333.5:n.6090-2A>G (PAX6)
ENST00000606377.5:c.1226-2A>G (PAX6) ENSP00000480026.1:n.1226-2A>G
NM_000280.4:c.1184-2A>G (PAX6) NP_000271.1:n.1184-2A>G
NM_001127612.1:c.1184-2A>G (PAX6) NP_001121084.1:n.1184-2A>G
NM_001258462.1:c.1226-2A>G (PAX6) NP_001245391.1:n.1226-2A>G
NM_001258463.1:c.1226-2A>G (PAX6) NP_001245392.1:n.1226-2A>G
NM_001258464.1:c.1184-2A>G (PAX6) NP_001245393.1:n.1184-2A>G
NM_001258465.1:c.1184-2A>G (PAX6) NP_001245394.1:n.1184-2A>G
NM_001310158.1:c.1226-2A>G (PAX6) NP_001297087.1:n.1226-2A>G
NM_001310160.1:c.776-2A>G (PAX6) NP_001297089.1:n.776-2A>G
NM_001310161.1:c.776-2A>G (PAX6) NP_001297090.1:n.776-2A>G
NM_001604.5:c.1226-2A>G (PAX6) NP_001595.2:n.1226-2A>G
XM_005252954.3:c.1226-2A>G (PAX6) XP_005253011.1:n.1226-2A>G
XM_005252955.3:c.1184-2A>G (PAX6) XP_005253012.1:n.1184-2A>G
XM_005252956.3:c.1184-2A>G (PAX6) XP_005253013.1:n.1184-2A>G
XM_005252958.3:c.776-2A>G (PAX6) XP_005253015.1:n.776-2A>G
XM_006718246.2:c.983-2A>G (PAX6) XP_006718309.1:n.983-2A>G
XM_011520146.1:c.1430-2A>G (PAX6) XP_011518448.1:n.1430-2A>G
XM_011520147.1:c.1388-2A>G (PAX6) XP_011518449.1:n.1388-2A>G
XM_011520148.1:c.1229-2A>G (PAX6) XP_011518450.1:n.1229-2A>G
XM_011520149.1:c.1226-2A>G (PAX6) XP_011518451.1:n.1226-2A>G
XM_011520150.1:c.1226-2A>G (PAX6) XP_011518452.1:n.1226-2A>G
XM_011520151.1:c.1187-2A>G (PAX6) XP_011518453.1:n.1187-2A>G
XM_011520152.1:c.1025-2A>G (PAX6) XP_011518454.1:n.1025-2A>G
XM_011520153.1:c.776-2A>G (PAX6) XP_011518455.1:n.776-2A>G
NM_019040.5:c.*6497T>C (ELP4) MANE Select NP_061913.3:n.*6497T>C
NM_001127612.2:c.1184-2A>G (PAX6) NP_001121084.1:n.1184-2A>G
NM_001258462.2:c.1226-2A>G (PAX6) NP_001245391.1:n.1226-2A>G
NM_001258465.2:c.1184-2A>G (PAX6) NP_001245394.1:n.1184-2A>G
NM_001288725.2:c.*6483T>C (ELP4) NP_001275654.1:n.*6483T>C
NM_001288726.2:c.*6592T>C (ELP4) NP_001275655.1:n.*6592T>C
NM_001310161.2:c.776-2A>G (PAX6) NP_001297090.1:n.776-2A>G
NM_001368887.1:c.1184-2A>G (PAX6) NP_001355816.1:n.1184-2A>G
NM_001368888.1:c.1184-2A>G (PAX6) NP_001355817.1:n.1184-2A>G
NM_001368889.1:c.1184-2A>G (PAX6) NP_001355818.1:n.1184-2A>G
NM_001368890.1:c.1184-2A>G (PAX6) NP_001355819.1:n.1184-2A>G
NM_001368891.1:c.1184-2A>G (PAX6) NP_001355820.1:n.1184-2A>G
NM_001368892.1:c.1226-2A>G (PAX6) NP_001355821.1:n.1226-2A>G
NM_001368893.1:c.1226-2A>G (PAX6) NP_001355822.1:n.1226-2A>G
NM_001368894.1:c.1226-2A>G (PAX6) NP_001355823.1:n.1226-2A>G
NM_001368899.1:c.776-2A>G (PAX6) NP_001355828.1:n.776-2A>G
NM_001368900.1:c.776-2A>G (PAX6) NP_001355829.1:n.776-2A>G
NM_001368901.1:c.776-2A>G (PAX6) NP_001355830.1:n.776-2A>G
NM_001368902.1:c.776-2A>G (PAX6) NP_001355831.1:n.776-2A>G
NM_001368903.1:c.776-2A>G (PAX6) NP_001355832.1:n.776-2A>G
NM_001368904.1:c.776-2A>G (PAX6) NP_001355833.1:n.776-2A>G
NM_001368905.1:c.776-2A>G (PAX6) NP_001355834.1:n.776-2A>G
NM_001368906.1:c.776-2A>G (PAX6) NP_001355835.1:n.776-2A>G
NM_001368907.1:c.776-2A>G (PAX6) NP_001355836.1:n.776-2A>G
NM_001368908.1:c.776-2A>G (PAX6) NP_001355837.1:n.776-2A>G
NM_001368909.1:c.776-2A>G (PAX6) NP_001355838.1:n.776-2A>G
NM_001368910.1:c.1427-2A>G (PAX6) NP_001355839.1:n.1427-2A>G
NM_001368911.1:c.1078-2A>G (PAX6) NP_001355840.1:n.1078-2A>G
NM_001368912.1:c.1075-2A>G (PAX6) NP_001355841.1:n.1075-2A>G
NM_001368913.1:c.1075-2A>G (PAX6) NP_001355842.1:n.1075-2A>G
NM_001368914.1:c.1075-2A>G (PAX6) NP_001355843.1:n.1075-2A>G
NM_001368915.1:c.1033-2A>G (PAX6) NP_001355844.1:n.1033-2A>G
NM_001368916.1:c.1033-2A>G (PAX6) NP_001355845.1:n.1033-2A>G
NM_001368917.1:c.1033-2A>G (PAX6) NP_001355846.1:n.1033-2A>G
NM_001368918.1:c.1301-2A>G (PAX6) NP_001355847.1:n.1301-2A>G
NM_001368919.1:c.1301-2A>G (PAX6) NP_001355848.1:n.1301-2A>G
NM_001368920.1:c.1259-2A>G (PAX6) NP_001355849.1:n.1259-2A>G
NM_001368921.1:c.874-2A>G (PAX6) NP_001355850.1:n.874-2A>G
NM_001368922.1:c.1025-2A>G (PAX6) NP_001355851.1:n.1025-2A>G
NM_001368923.1:c.1025-2A>G (PAX6) NP_001355852.1:n.1025-2A>G
NM_001368924.1:c.1025-2A>G (PAX6) NP_001355853.1:n.1025-2A>G
NM_001368925.1:c.1025-2A>G (PAX6) NP_001355854.1:n.1025-2A>G
NM_001368926.1:c.1025-2A>G (PAX6) NP_001355855.1:n.1025-2A>G
NM_001368927.1:c.1025-2A>G (PAX6) NP_001355856.1:n.1025-2A>G
NM_001368928.1:c.983-2A>G (PAX6) NP_001355857.1:n.983-2A>G
NM_001368929.1:c.625-2A>G (PAX6) NP_001355858.1:n.625-2A>G
NM_001368930.1:c.581-2A>G (PAX6) NP_001355859.1:n.581-2A>G
NR_160916.1:n.1414-2A>G (PAX6)
NR_160917.1:n.1570-2A>G (PAX6)
NM_000280.5:c.1184-2A>G (PAX6) NP_000271.1:n.1184-2A>G
NM_001127612.3:c.1184-2A>G (PAX6) NP_001121084.1:n.1184-2A>G
NM_001258462.3:c.1226-2A>G (PAX6) NP_001245391.1:n.1226-2A>G
NM_001258463.2:c.1226-2A>G (PAX6) NP_001245392.1:n.1226-2A>G
NM_001258464.2:c.1184-2A>G (PAX6) NP_001245393.1:n.1184-2A>G
NM_001258465.3:c.1184-2A>G (PAX6) NP_001245394.1:n.1184-2A>G
NM_001310158.2:c.1226-2A>G (PAX6) NP_001297087.1:n.1226-2A>G
NM_001310160.2:c.776-2A>G (PAX6) NP_001297089.1:n.776-2A>G
NM_001310161.3:c.776-2A>G (PAX6) NP_001297090.1:n.776-2A>G
NM_001368887.2:c.1184-2A>G (PAX6) NP_001355816.1:n.1184-2A>G
NM_001368888.2:c.1184-2A>G (PAX6) NP_001355817.1:n.1184-2A>G
NM_001368889.2:c.1184-2A>G (PAX6) NP_001355818.1:n.1184-2A>G
NM_001368890.2:c.1184-2A>G (PAX6) NP_001355819.1:n.1184-2A>G
NM_001368891.2:c.1184-2A>G (PAX6) NP_001355820.1:n.1184-2A>G
NM_001368892.2:c.1226-2A>G (PAX6) NP_001355821.1:n.1226-2A>G
NM_001368893.2:c.1226-2A>G (PAX6) NP_001355822.1:n.1226-2A>G
NM_001368894.2:c.1226-2A>G (PAX6) MANE Select NP_001355823.1:n.1226-2A>G
NM_001368899.2:c.776-2A>G (PAX6) NP_001355828.1:n.776-2A>G
NM_001368900.2:c.776-2A>G (PAX6) NP_001355829.1:n.776-2A>G
NM_001368901.2:c.776-2A>G (PAX6) NP_001355830.1:n.776-2A>G
NM_001368902.2:c.776-2A>G (PAX6) NP_001355831.1:n.776-2A>G
NM_001368903.2:c.776-2A>G (PAX6) NP_001355832.1:n.776-2A>G
NM_001368904.2:c.776-2A>G (PAX6) NP_001355833.1:n.776-2A>G
NM_001368905.2:c.776-2A>G (PAX6) NP_001355834.1:n.776-2A>G
NM_001368906.2:c.776-2A>G (PAX6) NP_001355835.1:n.776-2A>G
NM_001368907.2:c.776-2A>G (PAX6) NP_001355836.1:n.776-2A>G
NM_001368908.2:c.776-2A>G (PAX6) NP_001355837.1:n.776-2A>G
NM_001368909.2:c.776-2A>G (PAX6) NP_001355838.1:n.776-2A>G
NM_001368910.2:c.1427-2A>G (PAX6) NP_001355839.1:n.1427-2A>G
NM_001368911.2:c.1078-2A>G (PAX6) NP_001355840.1:n.1078-2A>G
NM_001368912.2:c.1075-2A>G (PAX6) NP_001355841.1:n.1075-2A>G
NM_001368913.2:c.1075-2A>G (PAX6) NP_001355842.1:n.1075-2A>G
NM_001368914.2:c.1075-2A>G (PAX6) NP_001355843.1:n.1075-2A>G
NM_001368915.2:c.1033-2A>G (PAX6) NP_001355844.1:n.1033-2A>G
NM_001368916.2:c.1033-2A>G (PAX6) NP_001355845.1:n.1033-2A>G
NM_001368917.2:c.1033-2A>G (PAX6) NP_001355846.1:n.1033-2A>G
NM_001368918.2:c.1301-2A>G (PAX6) NP_001355847.1:n.1301-2A>G
NM_001368919.2:c.1301-2A>G (PAX6) NP_001355848.1:n.1301-2A>G
NM_001368920.2:c.1259-2A>G (PAX6) NP_001355849.1:n.1259-2A>G
NM_001368921.2:c.874-2A>G (PAX6) NP_001355850.1:n.874-2A>G
NM_001368922.2:c.1025-2A>G (PAX6) NP_001355851.1:n.1025-2A>G
NM_001368923.2:c.1025-2A>G (PAX6) NP_001355852.1:n.1025-2A>G
NM_001368924.2:c.1025-2A>G (PAX6) NP_001355853.1:n.1025-2A>G
NM_001368925.2:c.1025-2A>G (PAX6) NP_001355854.1:n.1025-2A>G
NM_001368926.2:c.1025-2A>G (PAX6) NP_001355855.1:n.1025-2A>G
NM_001368927.2:c.1025-2A>G (PAX6) NP_001355856.1:n.1025-2A>G
NM_001368928.2:c.983-2A>G (PAX6) NP_001355857.1:n.983-2A>G
NM_001368929.2:c.625-2A>G (PAX6) NP_001355858.1:n.625-2A>G
NM_001368930.2:c.581-2A>G (PAX6) NP_001355859.1:n.581-2A>G
NM_001604.6:c.1226-2A>G (PAX6) NP_001595.2:n.1226-2A>G
NR_160916.2:n.1414-2A>G (PAX6)
NR_160917.2:n.1570-2A>G (PAX6)
NM_000280.6:c.1184-2A>G (PAX6) NP_000271.1:n.1184-2A>G
Search 100 bp 5'
Search 100 bp 3'