Canonical Allele Identifier: CA482918687

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915810C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341671C>G , CM000675.2:g.23341671C>G	GRCh38
NC_000013.10:g.23915810C>G , CM000675.1:g.23915810C>G	GRCh37
NC_000013.9:g.22813810C>G	NCBI36
NG_012342.1:g.97032G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12114G>C	ENSP00000508399.1:n.2185+12114G>C
ENST00000682944.1:c.2232G>C	ENSP00000507173.1:p.Leu744=
ENST00000683210.1:c.2185+12114G>C	ENSP00000506739.1:n.2185+12114G>C
ENST00000683270.1:c.2196G>C	ENSP00000507624.1:p.Leu732=
ENST00000683367.1:c.2176+12114G>C	ENSP00000507780.1:n.2176+12114G>C
ENST00000683489.1:c.2205G>C	ENSP00000508403.1:p.Leu735=
ENST00000683680.1:c.2232G>C	ENSP00000507223.1:p.Leu744=
ENST00000684163.1:c.2203+5140G>C	ENSP00000508262.1:n.2203+5140G>C
ENST00000684196.1:n.4542+12114G>C
ENST00000684325.1:c.2185+12114G>C	ENSP00000508121.1:n.2185+12114G>C
ENST00000684385.1:c.2220+5140G>C	ENSP00000507855.1:n.2220+5140G>C
ENST00000684497.1:c.2185+12114G>C	ENSP00000507057.1:n.2185+12114G>C
ENST00000382292.9:c.2205G>C MANE Select	ENSP00000371729.3:p.Leu735=
ENST00000423156.2:c.2185+12114G>C	ENSP00000390925.2:n.2185+12114G>C
ENST00000455470.6:c.2205G>C	ENSP00000406565.2:p.Leu735=
ENST00000382292.7:c.2205G>C	ENSP00000371729.3:p.Leu735=
ENST00000382298.7:c.2205G>C	ENSP00000371735.3:p.Leu735=
ENST00000402364.1:c.-46G>C	ENSP00000385844.1:n.-46G>C
ENST00000423156.1:c.1057+12114G>C	ENSP00000390925.1:n.1057+12114G>C
ENST00000455470.5:c.1903G>C
NM_001278055.1:c.1764G>C	NP_001264984.1:p.Leu588=
NM_014363.5:c.2205G>C	NP_055178.3:p.Leu735=
XM_005266338.1:c.2232G>C	XP_005266395.1:p.Leu744=
XM_011535038.1:c.2256G>C	XP_011533340.1:p.Leu752=
XM_011535039.1:c.2223G>C	XP_011533341.1:p.Leu741=
XM_005266338.2:c.2232G>C	XP_005266395.1:p.Leu744=
XM_011535039.2:c.2223G>C	XP_011533341.1:p.Leu741=
XM_017020539.1:c.2196G>C	XP_016876028.1:p.Leu732=
XM_024449337.1:c.2232G>C	XP_024305105.1:p.Leu744=
NM_014363.6:c.2205G>C MANE Select	NP_055178.3:p.Leu735=
NM_001278055.2:c.1764G>C	NP_001264984.1:p.Leu588=