Canonical Allele Identifier: CA1183250

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158656586C>T , CM000663.2:g.158656586C>T	GRCh38
NC_000001.10:g.158626376C>T , CM000663.1:g.158626376C>T	GRCh37
NC_000001.9:g.156893000C>T	NCBI36
NG_011474.1:g.35131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.2876G>A MANE Select	ENSP00000495214.1:p.Arg959Gln
ENST00000368147.8:c.2876G>A	ENSP00000357129.4:p.Arg959Gln
ENST00000614909.4:c.2876G>A	ENSP00000482595.1:p.Arg959Gln
NM_003126.2:c.2876G>A	NP_003117.2:p.Arg959Gln
XM_011509916.1:c.2876G>A	XP_011508218.1:p.Arg959Gln
XM_011509917.1:c.2876G>A	XP_011508219.1:p.Arg959Gln
XM_011509918.1:c.2876G>A	XP_011508220.1:p.Arg959Gln
XM_011509919.1:c.2876G>A	XP_011508221.1:p.Arg959Gln
XR_921911.1:n.2989G>A
XR_921912.1:n.2994G>A
NM_003126.3:c.2876G>A	NP_003117.2:p.Arg959Gln
XM_011509916.2:c.2876G>A	XP_011508218.1:p.Arg959Gln
XM_011509917.3:c.2876G>A	XP_011508219.1:p.Arg959Gln
XM_011509918.3:c.2876G>A	XP_011508220.1:p.Arg959Gln
XM_011509919.3:c.2876G>A	XP_011508221.1:p.Arg959Gln
XR_921911.3:n.3002G>A
XR_921912.2:n.3004G>A
NM_003126.4:c.2876G>A MANE Select	NP_003117.2:p.Arg959Gln