Canonical Allele Identifier: CA483162799

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23913557A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339418A>G , CM000675.2:g.23339418A>G	GRCh38
NC_000013.10:g.23913557A>G , CM000675.1:g.23913557A>G	GRCh37
NC_000013.9:g.22811557A>G	NCBI36
NG_012342.1:g.99285T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14367T>C	ENSP00000508399.1:n.2185+14367T>C
ENST00000682944.1:c.4485T>C	ENSP00000507173.1:p.Asp1495=
ENST00000683210.1:c.2185+14367T>C	ENSP00000506739.1:n.2185+14367T>C
ENST00000683270.1:c.4449T>C	ENSP00000507624.1:p.Asp1483=
ENST00000683367.1:c.2177-9934T>C	ENSP00000507780.1:n.2177-9934T>C
ENST00000683489.1:c.2291+2167T>C	ENSP00000508403.1:n.2291+2167T>C
ENST00000683680.1:c.2318+2167T>C	ENSP00000507223.1:n.2318+2167T>C
ENST00000684163.1:c.2203+7393T>C	ENSP00000508262.1:n.2203+7393T>C
ENST00000684196.1:n.4543-9934T>C
ENST00000684325.1:c.2185+14367T>C	ENSP00000508121.1:n.2185+14367T>C
ENST00000684385.1:c.2220+7393T>C	ENSP00000507855.1:n.2220+7393T>C
ENST00000684497.1:c.2185+14367T>C	ENSP00000507057.1:n.2185+14367T>C
ENST00000382292.9:c.4458T>C MANE Select	ENSP00000371729.3:p.Asp1486=
ENST00000423156.2:c.2186-9934T>C	ENSP00000390925.2:n.2186-9934T>C
ENST00000455470.6:c.2431+2027T>C	ENSP00000406565.2:n.2431+2027T>C
ENST00000382292.7:c.4458T>C	ENSP00000371729.3:p.Asp1486=
ENST00000382298.7:c.4458T>C	ENSP00000371735.3:p.Asp1486=
ENST00000402364.1:c.2208T>C	ENSP00000385844.1:p.Asp736=
ENST00000423156.1:c.1058-9934T>C	ENSP00000390925.1:n.1058-9934T>C
ENST00000455470.5:c.2129+2027T>C
NM_001278055.1:c.4017T>C	NP_001264984.1:p.Asp1339=
NM_014363.5:c.4458T>C	NP_055178.3:p.Asp1486=
XM_005266338.1:c.4485T>C	XP_005266395.1:p.Asp1495=
XM_011535038.1:c.4509T>C	XP_011533340.1:p.Asp1503=
XM_011535039.1:c.4476T>C	XP_011533341.1:p.Asp1492=
XM_005266338.2:c.4485T>C	XP_005266395.1:p.Asp1495=
XM_011535039.2:c.4476T>C	XP_011533341.1:p.Asp1492=
XM_017020539.1:c.4449T>C	XP_016876028.1:p.Asp1483=
XM_024449337.1:c.4485T>C	XP_024305105.1:p.Asp1495=
NM_014363.6:c.4458T>C MANE Select	NP_055178.3:p.Asp1486=
NM_001278055.2:c.4017T>C	NP_001264984.1:p.Asp1339=