Canonical Allele Identifier: CA483163337

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914478A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340339A>G , CM000675.2:g.23340339A>G	GRCh38
NC_000013.10:g.23914478A>G , CM000675.1:g.23914478A>G	GRCh37
NC_000013.9:g.22812478A>G	NCBI36
NG_012342.1:g.98364T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13446T>C	ENSP00000508399.1:n.2185+13446T>C
ENST00000682944.1:c.3564T>C	ENSP00000507173.1:p.Asn1188=
ENST00000683210.1:c.2185+13446T>C	ENSP00000506739.1:n.2185+13446T>C
ENST00000683270.1:c.3528T>C	ENSP00000507624.1:p.Asn1176=
ENST00000683367.1:c.2177-10855T>C	ENSP00000507780.1:n.2177-10855T>C
ENST00000683489.1:c.2291+1246T>C	ENSP00000508403.1:n.2291+1246T>C
ENST00000683680.1:c.2318+1246T>C	ENSP00000507223.1:n.2318+1246T>C
ENST00000684163.1:c.2203+6472T>C	ENSP00000508262.1:n.2203+6472T>C
ENST00000684196.1:n.4543-10855T>C
ENST00000684325.1:c.2185+13446T>C	ENSP00000508121.1:n.2185+13446T>C
ENST00000684385.1:c.2220+6472T>C	ENSP00000507855.1:n.2220+6472T>C
ENST00000684497.1:c.2185+13446T>C	ENSP00000507057.1:n.2185+13446T>C
ENST00000382292.9:c.3537T>C MANE Select	ENSP00000371729.3:p.Asn1179=
ENST00000423156.2:c.2186-10855T>C	ENSP00000390925.2:n.2186-10855T>C
ENST00000455470.6:c.2431+1106T>C	ENSP00000406565.2:n.2431+1106T>C
ENST00000382292.7:c.3537T>C	ENSP00000371729.3:p.Asn1179=
ENST00000382298.7:c.3537T>C	ENSP00000371735.3:p.Asn1179=
ENST00000402364.1:c.1287T>C	ENSP00000385844.1:p.Asn429=
ENST00000423156.1:c.1058-10855T>C	ENSP00000390925.1:n.1058-10855T>C
ENST00000455470.5:c.2129+1106T>C
NM_001278055.1:c.3096T>C	NP_001264984.1:p.Asn1032=
NM_014363.5:c.3537T>C	NP_055178.3:p.Asn1179=
XM_005266338.1:c.3564T>C	XP_005266395.1:p.Asn1188=
XM_011535038.1:c.3588T>C	XP_011533340.1:p.Asn1196=
XM_011535039.1:c.3555T>C	XP_011533341.1:p.Asn1185=
XM_005266338.2:c.3564T>C	XP_005266395.1:p.Asn1188=
XM_011535039.2:c.3555T>C	XP_011533341.1:p.Asn1185=
XM_017020539.1:c.3528T>C	XP_016876028.1:p.Asn1176=
XM_024449337.1:c.3564T>C	XP_024305105.1:p.Asn1188=
NM_014363.6:c.3537T>C MANE Select	NP_055178.3:p.Asn1179=
NM_001278055.2:c.3096T>C	NP_001264984.1:p.Asn1032=