Canonical Allele Identifier: CA1184046

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158678465G>A , CM000663.2:g.158678465G>A	GRCh38
NC_000001.10:g.158648255G>A , CM000663.1:g.158648255G>A	GRCh37
NC_000001.9:g.156914879G>A	NCBI36
NG_011474.1:g.13252C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.748C>T MANE Select	NP_003117.2:p.Arg250Cys
ENST00000643759.2:c.748C>T MANE Select	ENSP00000495214.1:p.Arg250Cys
NM_003126.2:c.748C>T	NP_003117.2:p.Arg250Cys
NM_003126.3:c.748C>T	NP_003117.2:p.Arg250Cys
ENST00000368147.8:c.748C>T	ENSP00000357129.4:p.Arg250Cys
ENST00000467387.1:c.202C>T	ENSP00000476485.1:p.Arg68Cys
ENST00000614909.4:c.748C>T	ENSP00000482595.1:p.Arg250Cys
XM_011509916.1:c.748C>T	XP_011508218.1:p.Arg250Cys
XM_011509916.2:c.748C>T	XP_011508218.1:p.Arg250Cys
XM_011509917.1:c.748C>T	XP_011508219.1:p.Arg250Cys
XM_011509917.3:c.748C>T	XP_011508219.1:p.Arg250Cys
XM_011509918.1:c.748C>T	XP_011508220.1:p.Arg250Cys
XM_011509918.3:c.748C>T	XP_011508220.1:p.Arg250Cys
XM_011509919.1:c.748C>T	XP_011508221.1:p.Arg250Cys
XM_011509919.3:c.748C>T	XP_011508221.1:p.Arg250Cys
XR_921911.1:n.861C>T
XR_921911.3:n.874C>T
XR_921912.1:n.866C>T
XR_921912.2:n.876C>T