Canonical Allele Identifier: CA387534825

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914500A>T (hg19) ; chr13:g.23340361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340361A>T , CM000675.2:g.23340361A>T	GRCh38
NC_000013.10:g.23914500A>T , CM000675.1:g.23914500A>T	GRCh37
NC_000013.9:g.22812500A>T	NCBI36
NG_012342.1:g.98342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13424T>A	ENSP00000508399.1:n.2185+13424T>A
ENST00000682944.1:c.3542T>A	ENSP00000507173.1:p.Val1181Asp
ENST00000683210.1:c.2185+13424T>A	ENSP00000506739.1:n.2185+13424T>A
ENST00000683270.1:c.3506T>A	ENSP00000507624.1:p.Val1169Asp
ENST00000683367.1:c.2177-10877T>A	ENSP00000507780.1:n.2177-10877T>A
ENST00000683489.1:c.2291+1224T>A	ENSP00000508403.1:n.2291+1224T>A
ENST00000683680.1:c.2318+1224T>A	ENSP00000507223.1:n.2318+1224T>A
ENST00000684163.1:c.2203+6450T>A	ENSP00000508262.1:n.2203+6450T>A
ENST00000684196.1:n.4543-10877T>A
ENST00000684325.1:c.2185+13424T>A	ENSP00000508121.1:n.2185+13424T>A
ENST00000684385.1:c.2220+6450T>A	ENSP00000507855.1:n.2220+6450T>A
ENST00000684497.1:c.2185+13424T>A	ENSP00000507057.1:n.2185+13424T>A
ENST00000382292.9:c.3515T>A MANE Select	ENSP00000371729.3:p.Val1172Asp
ENST00000423156.2:c.2186-10877T>A	ENSP00000390925.2:n.2186-10877T>A
ENST00000455470.6:c.2431+1084T>A	ENSP00000406565.2:n.2431+1084T>A
ENST00000382292.7:c.3515T>A	ENSP00000371729.3:p.Val1172Asp
ENST00000382298.7:c.3515T>A	ENSP00000371735.3:p.Val1172Asp
ENST00000402364.1:c.1265T>A	ENSP00000385844.1:p.Val422Asp
ENST00000423156.1:c.1058-10877T>A	ENSP00000390925.1:n.1058-10877T>A
ENST00000455470.5:c.2129+1084T>A
NM_001278055.1:c.3074T>A	NP_001264984.1:p.Val1025Asp
NM_014363.5:c.3515T>A	NP_055178.3:p.Val1172Asp
XM_005266338.1:c.3542T>A	XP_005266395.1:p.Val1181Asp
XM_011535038.1:c.3566T>A	XP_011533340.1:p.Val1189Asp
XM_011535039.1:c.3533T>A	XP_011533341.1:p.Val1178Asp
XM_005266338.2:c.3542T>A	XP_005266395.1:p.Val1181Asp
XM_011535039.2:c.3533T>A	XP_011533341.1:p.Val1178Asp
XM_017020539.1:c.3506T>A	XP_016876028.1:p.Val1169Asp
XM_024449337.1:c.3542T>A	XP_024305105.1:p.Val1181Asp
NM_014363.6:c.3515T>A MANE Select	NP_055178.3:p.Val1172Asp
NM_001278055.2:c.3074T>A	NP_001264984.1:p.Val1025Asp