Canonical Allele Identifier: CA6910913

Gene: SACS

Linked Data

• ClinVar Variation Id: 1092984
• ClinVar RCV Id: RCV001412965
• dbSNP Id: rs748990212
• ExAC: 13:23910620 C / T
• gnomAD v2: 13-23910620-C-T
• gnomAD v4: 13-23336481-C-T
• MyVariant Identifiers: chr13:g.23910620C>T (hg19) ; chr13:g.23336481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336481C>T , CM000675.2:g.23336481C>T	GRCh38
NC_000013.10:g.23910620C>T , CM000675.1:g.23910620C>T	GRCh37
NC_000013.9:g.22808620C>T	NCBI36
NG_012342.1:g.102222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17304G>A	ENSP00000508399.1:n.2185+17304G>A
ENST00000682944.1:c.7422G>A	ENSP00000507173.1:p.Ser2474=
ENST00000683210.1:c.2185+17304G>A	ENSP00000506739.1:n.2185+17304G>A
ENST00000683270.1:c.6445+941G>A	ENSP00000507624.1:n.6445+941G>A
ENST00000683367.1:c.2177-6997G>A	ENSP00000507780.1:n.2177-6997G>A
ENST00000683489.1:c.2291+5104G>A	ENSP00000508403.1:n.2291+5104G>A
ENST00000683680.1:c.2318+5104G>A	ENSP00000507223.1:n.2318+5104G>A
ENST00000684163.1:c.2204-6997G>A	ENSP00000508262.1:n.2204-6997G>A
ENST00000684196.1:n.4543-6997G>A
ENST00000684325.1:c.2186-14807G>A	ENSP00000508121.1:n.2186-14807G>A
ENST00000684385.1:c.2221-6997G>A	ENSP00000507855.1:n.2221-6997G>A
ENST00000684497.1:c.2186-13837G>A	ENSP00000507057.1:n.2186-13837G>A
ENST00000382292.9:c.7395G>A MANE Select	ENSP00000371729.3:p.Ser2465=
ENST00000423156.2:c.2186-6997G>A	ENSP00000390925.2:n.2186-6997G>A
ENST00000455470.6:c.2431+4964G>A	ENSP00000406565.2:n.2431+4964G>A
ENST00000382292.7:c.7395G>A	ENSP00000371729.3:p.Ser2465=
ENST00000382298.7:c.7395G>A	ENSP00000371735.3:p.Ser2465=
ENST00000402364.1:c.5145G>A	ENSP00000385844.1:p.Ser1715=
ENST00000423156.1:c.1058-6997G>A	ENSP00000390925.1:n.1058-6997G>A
ENST00000455470.5:c.2129+4964G>A
NM_001278055.1:c.6954G>A	NP_001264984.1:p.Ser2318=
NM_014363.5:c.7395G>A	NP_055178.3:p.Ser2465=
XM_005266338.1:c.7422G>A	XP_005266395.1:p.Ser2474=
XM_011535038.1:c.7446G>A	XP_011533340.1:p.Ser2482=
XM_011535039.1:c.7413G>A	XP_011533341.1:p.Ser2471=
XM_005266338.2:c.7422G>A	XP_005266395.1:p.Ser2474=
XM_011535039.2:c.7413G>A	XP_011533341.1:p.Ser2471=
XM_017020539.1:c.7386G>A	XP_016876028.1:p.Ser2462=
XM_024449337.1:c.7422G>A	XP_024305105.1:p.Ser2474=
NM_014363.6:c.7395G>A MANE Select	NP_055178.3:p.Ser2465=
NM_001278055.2:c.6954G>A	NP_001264984.1:p.Ser2318=