Canonical Allele Identifier: CA387526846

Gene: SACS

Linked Data

• ClinVar Variation Id: 2643674
• ClinVar RCV Id: RCV003410983
• MyVariant Identifiers: chr13:g.23912978A>T (hg19) ; chr13:g.23338839A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338839A>T , CM000675.2:g.23338839A>T	GRCh38
NC_000013.10:g.23912978A>T , CM000675.1:g.23912978A>T	GRCh37
NC_000013.9:g.22810978A>T	NCBI36
NG_012342.1:g.99864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14946T>A	ENSP00000508399.1:n.2185+14946T>A
ENST00000682944.1:c.5064T>A	ENSP00000507173.1:p.Cys1688Ter
ENST00000683210.1:c.2185+14946T>A	ENSP00000506739.1:n.2185+14946T>A
ENST00000683270.1:c.5028T>A	ENSP00000507624.1:p.Cys1676Ter
ENST00000683367.1:c.2177-9355T>A	ENSP00000507780.1:n.2177-9355T>A
ENST00000683489.1:c.2291+2746T>A	ENSP00000508403.1:n.2291+2746T>A
ENST00000683680.1:c.2318+2746T>A	ENSP00000507223.1:n.2318+2746T>A
ENST00000684163.1:c.2203+7972T>A	ENSP00000508262.1:n.2203+7972T>A
ENST00000684196.1:n.4543-9355T>A
ENST00000684325.1:c.2185+14946T>A	ENSP00000508121.1:n.2185+14946T>A
ENST00000684385.1:c.2220+7972T>A	ENSP00000507855.1:n.2220+7972T>A
ENST00000684497.1:c.2185+14946T>A	ENSP00000507057.1:n.2185+14946T>A
ENST00000382292.9:c.5037T>A MANE Select	ENSP00000371729.3:p.Cys1679Ter
ENST00000423156.2:c.2186-9355T>A	ENSP00000390925.2:n.2186-9355T>A
ENST00000455470.6:c.2431+2606T>A	ENSP00000406565.2:n.2431+2606T>A
ENST00000382292.7:c.5037T>A	ENSP00000371729.3:p.Cys1679Ter
ENST00000382298.7:c.5037T>A	ENSP00000371735.3:p.Cys1679Ter
ENST00000402364.1:c.2787T>A	ENSP00000385844.1:p.Cys929Ter
ENST00000423156.1:c.1058-9355T>A	ENSP00000390925.1:n.1058-9355T>A
ENST00000455470.5:c.2129+2606T>A
NM_001278055.1:c.4596T>A	NP_001264984.1:p.Cys1532Ter
NM_014363.5:c.5037T>A	NP_055178.3:p.Cys1679Ter
XM_005266338.1:c.5064T>A	XP_005266395.1:p.Cys1688Ter
XM_011535038.1:c.5088T>A	XP_011533340.1:p.Cys1696Ter
XM_011535039.1:c.5055T>A	XP_011533341.1:p.Cys1685Ter
XM_005266338.2:c.5064T>A	XP_005266395.1:p.Cys1688Ter
XM_011535039.2:c.5055T>A	XP_011533341.1:p.Cys1685Ter
XM_017020539.1:c.5028T>A	XP_016876028.1:p.Cys1676Ter
XM_024449337.1:c.5064T>A	XP_024305105.1:p.Cys1688Ter
NM_014363.6:c.5037T>A MANE Select	NP_055178.3:p.Cys1679Ter
NM_001278055.2:c.4596T>A	NP_001264984.1:p.Cys1532Ter