Canonical Allele Identifier: CA6911645

Gene: SACS

Linked Data

• ClinVar Variation Id: 458261
• ClinVar RCV Id: RCV000544282 ; RCV003884601
• dbSNP Id: rs369958174
• ExAC: 13:23915333 C / T
• gnomAD v2: 13-23915333-C-T
• gnomAD v3: 13-23341194-C-T
• gnomAD v4: 13-23341194-C-T
• COSMIC: COSM946071 ; COSM1586913
• MyVariant Identifiers: chr13:g.23915333C>T (hg19) ; chr13:g.23341194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341194C>T , CM000675.2:g.23341194C>T	GRCh38
NC_000013.10:g.23915333C>T , CM000675.1:g.23915333C>T	GRCh37
NC_000013.9:g.22813333C>T	NCBI36
NG_012342.1:g.97509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12591G>A	ENSP00000508399.1:n.2185+12591G>A
ENST00000682944.1:c.2709G>A	ENSP00000507173.1:p.Ser903=
ENST00000683210.1:c.2185+12591G>A	ENSP00000506739.1:n.2185+12591G>A
ENST00000683270.1:c.2673G>A	ENSP00000507624.1:p.Ser891=
ENST00000683367.1:c.2177-11710G>A	ENSP00000507780.1:n.2177-11710G>A
ENST00000683489.1:c.2291+391G>A	ENSP00000508403.1:n.2291+391G>A
ENST00000683680.1:c.2318+391G>A	ENSP00000507223.1:n.2318+391G>A
ENST00000684163.1:c.2203+5617G>A	ENSP00000508262.1:n.2203+5617G>A
ENST00000684196.1:n.4543-11710G>A
ENST00000684325.1:c.2185+12591G>A	ENSP00000508121.1:n.2185+12591G>A
ENST00000684385.1:c.2220+5617G>A	ENSP00000507855.1:n.2220+5617G>A
ENST00000684497.1:c.2185+12591G>A	ENSP00000507057.1:n.2185+12591G>A
ENST00000382292.9:c.2682G>A MANE Select	ENSP00000371729.3:p.Ser894=
ENST00000423156.2:c.2186-11710G>A	ENSP00000390925.2:n.2186-11710G>A
ENST00000455470.6:c.2431+251G>A	ENSP00000406565.2:n.2431+251G>A
ENST00000382292.7:c.2682G>A	ENSP00000371729.3:p.Ser894=
ENST00000382298.7:c.2682G>A	ENSP00000371735.3:p.Ser894=
ENST00000402364.1:c.432G>A	ENSP00000385844.1:p.Ser144=
ENST00000423156.1:c.1058-11710G>A	ENSP00000390925.1:n.1058-11710G>A
ENST00000455470.5:c.2129+251G>A
NM_001278055.1:c.2241G>A	NP_001264984.1:p.Ser747=
NM_014363.5:c.2682G>A	NP_055178.3:p.Ser894=
XM_005266338.1:c.2709G>A	XP_005266395.1:p.Ser903=
XM_011535038.1:c.2733G>A	XP_011533340.1:p.Ser911=
XM_011535039.1:c.2700G>A	XP_011533341.1:p.Ser900=
XM_005266338.2:c.2709G>A	XP_005266395.1:p.Ser903=
XM_011535039.2:c.2700G>A	XP_011533341.1:p.Ser900=
XM_017020539.1:c.2673G>A	XP_016876028.1:p.Ser891=
XM_024449337.1:c.2709G>A	XP_024305105.1:p.Ser903=
NM_014363.6:c.2682G>A MANE Select	NP_055178.3:p.Ser894=
NM_001278055.2:c.2241G>A	NP_001264984.1:p.Ser747=