Canonical Allele Identifier: CA1182240

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158627669G>A , CM000663.2:g.158627669G>A	GRCh38
NC_000001.10:g.158597459G>A , CM000663.1:g.158597459G>A	GRCh37
NC_000001.9:g.156864083G>A	NCBI36
NG_011474.1:g.64048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5620C>T MANE Select	ENSP00000495214.1:p.Arg1874Ter
ENST00000368147.8:c.5620C>T	ENSP00000357129.4:p.Arg1874Ter
ENST00000461624.1:n.166C>T
ENST00000614909.4:c.5620C>T	ENSP00000482595.1:p.Arg1874Ter
NM_003126.2:c.5620C>T	NP_003117.2:p.Arg1874Ter
XM_011509916.1:c.5620C>T	XP_011508218.1:p.Arg1874Ter
XM_011509917.1:c.5620C>T	XP_011508219.1:p.Arg1874Ter
XM_011509918.1:c.5620C>T	XP_011508220.1:p.Arg1874Ter
XR_921911.1:n.5679-1447C>T
NM_003126.3:c.5620C>T	NP_003117.2:p.Arg1874Ter
XM_011509916.2:c.5620C>T	XP_011508218.1:p.Arg1874Ter
XM_011509917.3:c.5620C>T	XP_011508219.1:p.Arg1874Ter
XM_011509918.3:c.5620C>T	XP_011508220.1:p.Arg1874Ter
XR_921911.3:n.5692-1447C>T
NM_003126.4:c.5620C>T MANE Select	NP_003117.2:p.Arg1874Ter