Canonical Allele Identifier: CA1182431

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158638141C>T , CM000663.2:g.158638141C>T	GRCh38
NC_000001.10:g.158607931C>T , CM000663.1:g.158607931C>T	GRCh37
NC_000001.9:g.156874555C>T	NCBI36
NG_011474.1:g.53576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5081G>A MANE Select	ENSP00000495214.1:p.Arg1694His
ENST00000368147.8:c.5081G>A	ENSP00000357129.4:p.Arg1694His
ENST00000614909.4:c.5081G>A	ENSP00000482595.1:p.Arg1694His
NM_003126.2:c.5081G>A	NP_003117.2:p.Arg1694His
XM_011509916.1:c.5081G>A	XP_011508218.1:p.Arg1694His
XM_011509917.1:c.5081G>A	XP_011508219.1:p.Arg1694His
XM_011509918.1:c.5081G>A	XP_011508220.1:p.Arg1694His
XM_011509919.1:c.4981-1380G>A	XP_011508221.1:n.4981-1380G>A
XR_921911.1:n.5194G>A
NM_003126.3:c.5081G>A	NP_003117.2:p.Arg1694His
XM_011509916.2:c.5081G>A	XP_011508218.1:p.Arg1694His
XM_011509917.3:c.5081G>A	XP_011508219.1:p.Arg1694His
XM_011509918.3:c.5081G>A	XP_011508220.1:p.Arg1694His
XM_011509919.3:c.4981-1380G>A	XP_011508221.1:n.4981-1380G>A
XR_921911.3:n.5207G>A
NM_003126.4:c.5081G>A MANE Select	NP_003117.2:p.Arg1694His