Canonical Allele Identifier: CA483164588

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23929569C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355430C>A , CM000675.2:g.23355430C>A	GRCh38
NC_000013.10:g.23929569C>A , CM000675.1:g.23929569C>A	GRCh37
NC_000013.9:g.22827569C>A	NCBI36
NG_012342.1:g.83273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1182G>T	ENSP00000508399.1:p.Val394=
ENST00000682944.1:c.1182G>T	ENSP00000507173.1:p.Val394=
ENST00000683154.1:n.1320G>T
ENST00000683210.1:c.1182G>T	ENSP00000506739.1:p.Val394=
ENST00000683270.1:c.1173G>T	ENSP00000507624.1:p.Val391=
ENST00000683367.1:c.1173G>T	ENSP00000507780.1:p.Val391=
ENST00000683489.1:c.1182G>T	ENSP00000508403.1:p.Val394=
ENST00000683680.1:c.1182G>T	ENSP00000507223.1:p.Val394=
ENST00000684163.1:c.1173G>T	ENSP00000508262.1:p.Val391=
ENST00000684196.1:n.3539G>T
ENST00000684325.1:c.1182G>T	ENSP00000508121.1:p.Val394=
ENST00000684385.1:c.1182G>T	ENSP00000507855.1:p.Val394=
ENST00000684497.1:c.1182G>T	ENSP00000507057.1:p.Val394=
ENST00000382292.9:c.1182G>T MANE Select	ENSP00000371729.3:p.Val394=
ENST00000423156.2:c.1182G>T	ENSP00000390925.2:p.Val394=
ENST00000455470.6:c.1182G>T	ENSP00000406565.2:p.Val394=
ENST00000382292.7:c.1182G>T	ENSP00000371729.3:p.Val394=
ENST00000382298.7:c.1182G>T	ENSP00000371735.3:p.Val394=
ENST00000402364.1:c.-1069G>T	ENSP00000385844.1:n.-1069G>T
ENST00000423156.1:c.54G>T	ENSP00000390925.1:p.Val18=
ENST00000455470.5:c.880G>T
NM_001278055.1:c.741G>T	NP_001264984.1:p.Val247=
NM_014363.5:c.1182G>T	NP_055178.3:p.Val394=
XM_005266338.1:c.1182G>T	XP_005266395.1:p.Val394=
XM_011535038.1:c.1206G>T	XP_011533340.1:p.Val402=
XM_011535039.1:c.1173G>T	XP_011533341.1:p.Val391=
XM_005266338.2:c.1182G>T	XP_005266395.1:p.Val394=
XM_011535039.2:c.1173G>T	XP_011533341.1:p.Val391=
XM_017020539.1:c.1173G>T	XP_016876028.1:p.Val391=
XM_024449337.1:c.1182G>T	XP_024305105.1:p.Val394=
NM_014363.6:c.1182G>T MANE Select	NP_055178.3:p.Val394=
NM_001278055.2:c.741G>T	NP_001264984.1:p.Val247=