Canonical Allele Identifier: CA1182438

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158638173C>A , CM000663.2:g.158638173C>A	GRCh38
NC_000001.10:g.158607963C>A , CM000663.1:g.158607963C>A	GRCh37
NC_000001.9:g.156874587C>A	NCBI36
NG_011474.1:g.53544G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.5049G>T MANE Select	NP_003117.2:p.Gln1683His
ENST00000643759.2:c.5049G>T MANE Select	ENSP00000495214.1:p.Gln1683His
NM_003126.2:c.5049G>T	NP_003117.2:p.Gln1683His
NM_003126.3:c.5049G>T	NP_003117.2:p.Gln1683His
ENST00000368147.8:c.5049G>T	ENSP00000357129.4:p.Gln1683His
ENST00000614909.4:c.5049G>T	ENSP00000482595.1:p.Gln1683His
XM_011509916.1:c.5049G>T	XP_011508218.1:p.Gln1683His
XM_011509916.2:c.5049G>T	XP_011508218.1:p.Gln1683His
XM_011509917.1:c.5049G>T	XP_011508219.1:p.Gln1683His
XM_011509917.3:c.5049G>T	XP_011508219.1:p.Gln1683His
XM_011509918.1:c.5049G>T	XP_011508220.1:p.Gln1683His
XM_011509918.3:c.5049G>T	XP_011508220.1:p.Gln1683His
XM_011509919.1:c.4980+1409G>T	XP_011508221.1:n.4980+1409G>T
XM_011509919.3:c.4980+1409G>T	XP_011508221.1:n.4980+1409G>T
XR_921911.1:n.5162G>T
XR_921911.3:n.5175G>T