Canonical Allele Identifier: CA340036765

Gene: ST3GAL3

Linked Data

• MyVariant Identifiers: chr1:g.44395837T>G (hg19) ; chr1:g.43930165T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43930165T>G , CM000663.2:g.43930165T>G	GRCh38
NC_000001.10:g.44395837T>G , CM000663.1:g.44395837T>G	GRCh37
NC_000001.9:g.44168424T>G	NCBI36
NG_028196.1:g.227620T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262915.8:c.1279T>G	ENSP00000262915.3:p.Phe427Val
ENST00000332628.11:c.858T>G
ENST00000347631.8:c.1072T>G MANE Select	ENSP00000317192.6:p.Phe358Val
ENST00000351035.8:c.1234T>G	ENSP00000316999.6:p.Phe412Val
ENST00000353126.8:c.778T>G	ENSP00000330463.3:p.Phe260Val
ENST00000361392.9:c.1117T>G	ENSP00000355341.5:p.Phe373Val
ENST00000361400.9:c.1024T>G	ENSP00000354748.4:p.Phe342Val
ENST00000361746.9:c.1165T>G	ENSP00000354657.5:p.Phe389Val
ENST00000361812.9:c.476T>G	ENSP00000355201.4:p.Val159Gly
ENST00000372366.6:c.614T>G	ENSP00000361441.1:n.614T>G
ENST00000372368.7:c.1087T>G	ENSP00000361443.3:p.Phe363Val
ENST00000372372.7:c.1186T>G	ENSP00000361447.2:p.Phe396Val
ENST00000372374.7:c.979T>G	ENSP00000361449.2:p.Phe327Val
ENST00000469715.6:c.920T>G	ENSP00000431700.2:n.920T>G
ENST00000489897.6:c.*399T>G	ENSP00000437206.1:n.*399T>G
ENST00000490541.6:c.981T>G	ENSP00000435018.2:n.981T>G
ENST00000495482.2:n.1619T>G
ENST00000531993.6:c.637T>G	ENSP00000432682.2:p.Phe213Val
ENST00000533933.6:c.868T>G	ENSP00000432965.2:p.Phe290Val
ENST00000533997.6:c.*603T>G	ENSP00000432071.1:n.*603T>G
ENST00000642194.1:c.*269T>G	ENSP00000493708.1:n.*269T>G
ENST00000642331.1:c.1313T>G	ENSP00000493823.1:p.Val438Gly
ENST00000642504.1:c.*897T>G	ENSP00000494857.1:n.*897T>G
ENST00000642780.1:c.896T>G
ENST00000642934.1:c.730T>G	ENSP00000494146.1:p.Phe244Val
ENST00000642949.1:c.*534T>G	ENSP00000495709.1:n.*534T>G
ENST00000643252.1:c.1268T>G	ENSP00000495333.1:p.Val423Gly
ENST00000643283.1:c.*534T>G	ENSP00000494746.1:n.*534T>G
ENST00000643597.1:c.*222T>G	ENSP00000495977.1:n.*222T>G
ENST00000643813.1:c.1117T>G	ENSP00000496646.1:n.1117T>G
ENST00000644016.1:n.1042T>G
ENST00000644195.1:c.1072T>G	ENSP00000494201.1:p.Phe358Val
ENST00000644287.1:c.978T>G
ENST00000644378.1:n.622T>G
ENST00000644645.1:c.564T>G	ENSP00000495647.1:n.564T>G
ENST00000644922.1:c.745T>G	ENSP00000496289.1:p.Phe249Val
ENST00000645012.1:n.720T>G
ENST00000645057.1:c.*2394T>G	ENSP00000494063.1:n.*2394T>G
ENST00000645117.1:c.553T>G
ENST00000645142.1:c.*730T>G	ENSP00000496550.1:n.*730T>G
ENST00000645165.1:c.*880T>G	ENSP00000493660.1:n.*880T>G
ENST00000645394.1:c.*534T>G	ENSP00000495299.1:n.*534T>G
ENST00000645640.1:c.*1076T>G	ENSP00000494852.1:n.*1076T>G
ENST00000645644.1:n.1034T>G
ENST00000645670.1:n.1826T>G
ENST00000645705.1:c.*732T>G	ENSP00000496492.1:n.*732T>G
ENST00000646027.1:c.*150T>G	ENSP00000494396.1:n.*150T>G
ENST00000646069.1:c.*128T>G	ENSP00000496585.1:n.*128T>G
ENST00000646686.1:c.1220T>G	ENSP00000495683.1:p.Val407Gly
ENST00000646971.1:c.1072T>G	ENSP00000495887.1:p.Phe358Val
ENST00000647128.1:c.*144T>G	ENSP00000494374.1:n.*144T>G
ENST00000647134.1:c.*897T>G	ENSP00000495797.1:n.*897T>G
ENST00000647148.1:c.1199T>G	ENSP00000495939.1:p.Val400Gly
ENST00000647237.1:c.940T>G	ENSP00000495624.1:p.Phe314Val
ENST00000647482.1:c.*666T>G	ENSP00000495567.1:n.*666T>G
ENST00000647503.1:c.473T>G
ENST00000262915.7:c.1279T>G	ENSP00000262915.3:p.Phe427Val
ENST00000330208.6:c.288T>G	ENSP00000333494.3:p.Ser96Arg
ENST00000332628.10:c.979T>G	ENSP00000329755.6:p.Phe327Val
ENST00000335430.10:c.*56T>G	ENSP00000335633.7:n.*56T>G
ENST00000347631.6:c.1117T>G	ENSP00000317192.4:p.Phe373Val
ENST00000351035.7:c.1186T>G	ENSP00000316999.5:p.Phe396Val
ENST00000353126.7:c.778T>G	ENSP00000330463.3:p.Phe260Val
ENST00000361392.8:c.1072T>G	ENSP00000355341.4:p.Phe358Val
ENST00000361400.8:c.1024T>G	ENSP00000354748.4:p.Phe342Val
ENST00000361746.8:c.1279T>G	ENSP00000354657.4:p.Phe427Val
ENST00000361812.8:c.476T>G	ENSP00000355201.4:p.Val159Gly
ENST00000372362.6:c.431T>G	ENSP00000361437.2:p.Val144Gly
ENST00000372365.5:c.617T>G	ENSP00000361440.1:n.617T>G
ENST00000372366.5:c.614T>G	ENSP00000361441.1:n.614T>G
ENST00000372367.5:c.588T>G	ENSP00000361442.1:p.Ser196Arg
ENST00000372368.6:c.1234T>G	ENSP00000361443.2:p.Phe412Val
ENST00000372369.5:c.982T>G	ENSP00000361444.1:p.Phe328Val
ENST00000372372.6:c.1186T>G	ENSP00000361447.2:p.Phe396Val
ENST00000372374.6:c.979T>G	ENSP00000361449.2:p.Phe327Val
ENST00000469715.5:c.1104T>G	ENSP00000431700.1:n.1104T>G
ENST00000489897.5:c.*399T>G	ENSP00000437206.1:n.*399T>G
ENST00000490502.1:c.581T>G
ENST00000490541.5:c.920T>G	ENSP00000435018.1:n.920T>G
ENST00000495482.1:n.609T>G
ENST00000528371.5:c.543T>G	ENSP00000434876.1:p.Ser181Arg
ENST00000530581.5:c.837T>G	ENSP00000437293.1:n.837T>G
ENST00000531451.5:c.383T>G	ENSP00000435603.1:p.Val128Gly
ENST00000531816.1:c.288T>G	ENSP00000434378.1:p.Ser96Arg
ENST00000531993.5:c.730T>G	ENSP00000432682.1:p.Phe244Val
ENST00000533212.5:c.725T>G	ENSP00000435621.1:n.725T>G
ENST00000533933.5:c.778T>G	ENSP00000432965.1:p.Phe260Val
ENST00000533997.5:c.951T>G	ENSP00000432071.1:n.951T>G
ENST00000545417.5:c.476T>G	ENSP00000439634.1:p.Val159Gly
NM_001270459.1:c.982T>G	NP_001257388.1:p.Phe328Val
NM_001270460.1:c.979T>G	NP_001257389.1:p.Phe327Val
NM_001270461.1:c.730T>G	NP_001257390.1:p.Phe244Val
NM_001270462.1:c.637T>G	NP_001257391.1:p.Phe213Val
NM_001270463.1:c.588T>G	NP_001257392.1:p.Ser196Arg
NM_001270464.1:c.543T>G	NP_001257393.1:p.Ser181Arg
NM_001270465.1:c.*56T>G	NP_001257394.1:n.*56T>G
NM_001270466.1:c.288T>G	NP_001257395.1:p.Ser96Arg
NM_006279.3:c.1072T>G	NP_006270.1:p.Phe358Val
NM_174963.3:c.1279T>G	NP_777623.2:p.Phe427Val
NM_174964.2:c.1117T>G	NP_777624.1:p.Phe373Val
NM_174965.2:c.476T>G	NP_777625.1:p.Val159Gly
NM_174966.2:c.778T>G	NP_777626.1:p.Phe260Val
NM_174967.2:c.431T>G	NP_777627.1:p.Val144Gly
NM_174968.3:c.1234T>G	NP_777628.2:p.Phe412Val
NM_174969.2:c.1024T>G	NP_777629.1:p.Phe342Val
NM_174970.2:c.383T>G	NP_777630.1:p.Val128Gly
NM_174971.3:c.1186T>G	NP_777631.2:p.Phe396Val
NR_073016.1:n.1295T>G
NR_073017.1:n.1172T>G
NR_073018.1:n.1142T>G
NR_073019.1:n.1111T>G
NR_073020.1:n.1028T>G
NR_073021.1:n.956T>G
NR_073023.1:n.916T>G
XM_006710825.2:c.1268T>G	XP_006710888.1:p.Val423Gly
XM_006710826.2:c.1265T>G	XP_006710889.1:p.Val422Gly
XM_006710827.2:c.1220T>G	XP_006710890.1:p.Val407Gly
XM_006710828.2:c.989T>G	XP_006710891.1:p.Val330Gly
XM_006710829.2:c.947T>G	XP_006710892.1:p.Val316Gly
XM_011541972.1:c.1475T>G	XP_011540274.1:p.Val492Gly
XM_011541974.1:c.1430T>G	XP_011540276.1:p.Val477Gly
XM_011541975.1:c.1427T>G	XP_011540277.1:p.Val476Gly
XM_011541976.1:c.1382T>G	XP_011540278.1:p.Val461Gly
XM_011541977.1:c.1313T>G	XP_011540279.1:p.Val438Gly
XM_011541978.1:c.1307T>G	XP_011540280.1:p.Val436Gly
XM_011541979.1:c.1145T>G	XP_011540281.1:p.Val382Gly
XM_011541980.1:c.1103T>G	XP_011540282.1:p.Val368Gly
XM_011541981.1:c.985T>G	XP_011540283.1:p.Phe329Val
XM_011541982.1:c.989T>G	XP_011540284.1:p.Val330Gly
XM_011541983.1:c.986T>G	XP_011540285.1:p.Val329Gly
XM_011541987.1:c.947T>G	XP_011540289.1:p.Val316Gly
XM_011541988.1:c.947T>G	XP_011540290.1:p.Val316Gly
XM_011541989.1:c.*56T>G	XP_011540291.1:n.*56T>G
XM_011541990.1:c.629T>G	XP_011540292.1:p.Val210Gly
NM_001270461.2:c.730T>G	NP_001257390.1:p.Phe244Val
NM_001270462.2:c.637T>G	NP_001257391.1:p.Phe213Val
NM_001270463.2:c.588T>G	NP_001257392.1:p.Ser196Arg
NM_001270464.2:c.543T>G	NP_001257393.1:p.Ser181Arg
NM_001270465.2:c.*56T>G	NP_001257394.1:n.*56T>G
NM_001270466.2:c.288T>G	NP_001257395.1:p.Ser96Arg
NM_001350619.1:c.1313T>G	NP_001337548.1:p.Val438Gly
NM_001350620.1:c.1268T>G	NP_001337549.1:p.Val423Gly
NM_001350621.1:c.989T>G	NP_001337550.1:p.Val330Gly
NM_001363573.1:c.940T>G	NP_001350502.1:p.Phe314Val
NM_006279.4:c.1072T>G	NP_006270.1:p.Phe358Val
NM_174963.4:c.1279T>G	NP_777623.2:p.Phe427Val
NM_174964.3:c.1117T>G	NP_777624.1:p.Phe373Val
NM_174965.3:c.476T>G	NP_777625.1:p.Val159Gly
NM_174966.3:c.778T>G	NP_777626.1:p.Phe260Val
NM_174967.3:c.431T>G	NP_777627.1:p.Val144Gly
NM_174968.4:c.1234T>G	NP_777628.2:p.Phe412Val
NM_174969.3:c.1024T>G	NP_777629.1:p.Phe342Val
NM_174970.3:c.383T>G	NP_777630.1:p.Val128Gly
NM_174971.4:c.1186T>G	NP_777631.2:p.Phe396Val
NR_073016.2:n.1331T>G
NR_073017.2:n.1208T>G
NR_073018.2:n.1178T>G
NR_073019.2:n.1147T>G
NR_073020.2:n.1064T>G
NR_073021.2:n.992T>G
NR_073023.2:n.952T>G
NR_146867.1:n.1527T>G
XM_006710827.4:c.1220T>G	XP_006710890.1:p.Val407Gly
XM_011541974.2:c.1430T>G	XP_011540276.1:p.Val477Gly
XM_011541976.2:c.1382T>G	XP_011540278.1:p.Val461Gly
XM_011541980.3:c.1103T>G	XP_011540282.1:p.Val368Gly
XM_011541981.2:c.985T>G	XP_011540283.1:p.Phe329Val
XM_011541983.2:c.986T>G	XP_011540285.1:p.Val329Gly
XM_011541987.2:c.947T>G	XP_011540289.1:p.Val316Gly
XM_011541988.2:c.947T>G	XP_011540290.1:p.Val316Gly
XM_017002109.2:c.1475T>G	XP_016857598.1:p.Val492Gly
XM_017002113.1:c.1072T>G	XP_016857602.1:p.Phe358Val
XM_017002114.1:c.989T>G	XP_016857603.1:p.Val330Gly
XM_017002115.1:c.989T>G	XP_016857604.1:p.Val330Gly
XM_017002116.1:c.986T>G	XP_016857605.1:p.Val329Gly
XM_017002120.1:c.751T>G	XP_016857609.1:p.Phe251Val
XM_017002121.1:c.751T>G	XP_016857610.1:p.Phe251Val
XR_946745.2:n.1504T>G
NM_001270459.2:c.982T>G	NP_001257388.1:p.Phe328Val
NM_001270460.2:c.979T>G	NP_001257389.1:p.Phe327Val
NM_001270461.3:c.730T>G	NP_001257390.1:p.Phe244Val
NM_001270462.3:c.637T>G	NP_001257391.1:p.Phe213Val
NM_001270463.3:c.588T>G	NP_001257392.1:p.Ser196Arg
NM_001270464.3:c.543T>G	NP_001257393.1:p.Ser181Arg
NM_001350619.2:c.1313T>G	NP_001337548.1:p.Val438Gly
NM_001350620.2:c.1268T>G	NP_001337549.1:p.Val423Gly
NM_001350621.2:c.989T>G	NP_001337550.1:p.Val330Gly
NM_001363573.2:c.940T>G	NP_001350502.1:p.Phe314Val
NM_006279.5:c.1072T>G MANE Select	NP_006270.1:p.Phe358Val
NM_174963.5:c.1279T>G	NP_777623.2:p.Phe427Val
NM_174964.4:c.1117T>G	NP_777624.1:p.Phe373Val
NM_174966.4:c.778T>G	NP_777626.1:p.Phe260Val
NM_174967.4:c.431T>G	NP_777627.1:p.Val144Gly
NM_174968.5:c.1234T>G	NP_777628.2:p.Phe412Val
NM_174969.4:c.1024T>G	NP_777629.1:p.Phe342Val
NM_174970.4:c.383T>G	NP_777630.1:p.Val128Gly
NM_174971.5:c.1186T>G	NP_777631.2:p.Phe396Val
NR_073016.3:n.1292T>G
NR_073017.3:n.1169T>G
NR_073018.3:n.1139T>G
NR_073019.3:n.1108T>G
NR_073020.3:n.1025T>G
NR_073021.3:n.953T>G
NR_073023.3:n.913T>G
NR_146867.2:n.1488T>G
NM_001270465.3:c.*56T>G	NP_001257394.1:n.*56T>G
NM_001270466.3:c.288T>G	NP_001257395.1:p.Ser96Arg
NM_174965.4:c.476T>G	NP_777625.1:p.Val159Gly