Canonical Allele Identifier: CA1181787

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613814C>A , CM000663.2:g.158613814C>A	GRCh38
NC_000001.10:g.158583604C>A , CM000663.1:g.158583604C>A	GRCh37
NC_000001.9:g.156850228C>A	NCBI36
NG_011474.1:g.77903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6896G>T MANE Select	ENSP00000495214.1:p.Cys2299Phe
ENST00000368147.8:c.6896G>T	ENSP00000357129.4:p.Cys2299Phe
ENST00000481212.5:n.337G>T
ENST00000498708.1:n.328G>T
ENST00000614909.4:c.6896G>T	ENSP00000482595.1:p.Cys2299Phe
NM_003126.2:c.6896G>T	NP_003117.2:p.Cys2299Phe
XM_011509916.1:c.6896G>T	XP_011508218.1:p.Cys2299Phe
XM_011509917.1:c.6878G>T	XP_011508219.1:p.Cys2293Phe
NM_003126.3:c.6896G>T	NP_003117.2:p.Cys2299Phe
XM_011509916.2:c.6896G>T	XP_011508218.1:p.Cys2299Phe
XM_011509917.3:c.6878G>T	XP_011508219.1:p.Cys2293Phe
NM_003126.4:c.6896G>T MANE Select	NP_003117.2:p.Cys2299Phe