Canonical Allele Identifier: CA483161599

Gene: SACS

Linked Data

• ClinVar Variation Id: 2739928
• ClinVar RCV Id: RCV003589087
• dbSNP Id: rs1361636811
• gnomAD v2: 13-23910887-A-G
• gnomAD v4: 13-23336748-A-G
• MyVariant Identifiers: chr13:g.23910887A>G (hg19) ; chr13:g.23336748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336748A>G , CM000675.2:g.23336748A>G	GRCh38
NC_000013.10:g.23910887A>G , CM000675.1:g.23910887A>G	GRCh37
NC_000013.9:g.22808887A>G	NCBI36
NG_012342.1:g.101955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17037T>C	ENSP00000508399.1:n.2185+17037T>C
ENST00000682944.1:c.7155T>C	ENSP00000507173.1:p.Asn2385=
ENST00000683210.1:c.2185+17037T>C	ENSP00000506739.1:n.2185+17037T>C
ENST00000683270.1:c.6445+674T>C	ENSP00000507624.1:n.6445+674T>C
ENST00000683367.1:c.2177-7264T>C	ENSP00000507780.1:n.2177-7264T>C
ENST00000683489.1:c.2291+4837T>C	ENSP00000508403.1:n.2291+4837T>C
ENST00000683680.1:c.2318+4837T>C	ENSP00000507223.1:n.2318+4837T>C
ENST00000684163.1:c.2204-7264T>C	ENSP00000508262.1:n.2204-7264T>C
ENST00000684196.1:n.4543-7264T>C
ENST00000684325.1:c.2186-15074T>C	ENSP00000508121.1:n.2186-15074T>C
ENST00000684385.1:c.2221-7264T>C	ENSP00000507855.1:n.2221-7264T>C
ENST00000684497.1:c.2186-14104T>C	ENSP00000507057.1:n.2186-14104T>C
ENST00000382292.9:c.7128T>C MANE Select	ENSP00000371729.3:p.Asn2376=
ENST00000423156.2:c.2186-7264T>C	ENSP00000390925.2:n.2186-7264T>C
ENST00000455470.6:c.2431+4697T>C	ENSP00000406565.2:n.2431+4697T>C
ENST00000382292.7:c.7128T>C	ENSP00000371729.3:p.Asn2376=
ENST00000382298.7:c.7128T>C	ENSP00000371735.3:p.Asn2376=
ENST00000402364.1:c.4878T>C	ENSP00000385844.1:p.Asn1626=
ENST00000423156.1:c.1058-7264T>C	ENSP00000390925.1:n.1058-7264T>C
ENST00000455470.5:c.2129+4697T>C
NM_001278055.1:c.6687T>C	NP_001264984.1:p.Asn2229=
NM_014363.5:c.7128T>C	NP_055178.3:p.Asn2376=
XM_005266338.1:c.7155T>C	XP_005266395.1:p.Asn2385=
XM_011535038.1:c.7179T>C	XP_011533340.1:p.Asn2393=
XM_011535039.1:c.7146T>C	XP_011533341.1:p.Asn2382=
XM_005266338.2:c.7155T>C	XP_005266395.1:p.Asn2385=
XM_011535039.2:c.7146T>C	XP_011533341.1:p.Asn2382=
XM_017020539.1:c.7119T>C	XP_016876028.1:p.Asn2373=
XM_024449337.1:c.7155T>C	XP_024305105.1:p.Asn2385=
NM_014363.6:c.7128T>C MANE Select	NP_055178.3:p.Asn2376=
NM_001278055.2:c.6687T>C	NP_001264984.1:p.Asn2229=