Canonical Allele Identifier: CA1182165

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158626218A>G , CM000663.2:g.158626218A>G	GRCh38
NC_000001.10:g.158596008A>G , CM000663.1:g.158596008A>G	GRCh37
NC_000001.9:g.156862632A>G	NCBI36
NG_011474.1:g.65499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5838T>C MANE Select	ENSP00000495214.1:p.Asp1946=
ENST00000368147.8:c.5838T>C	ENSP00000357129.4:p.Asp1946=
ENST00000461624.1:n.384T>C
ENST00000614909.4:c.5838T>C	ENSP00000482595.1:p.Asp1946=
NM_003126.2:c.5838T>C	NP_003117.2:p.Asp1946=
XM_011509916.1:c.5838T>C	XP_011508218.1:p.Asp1946=
XM_011509917.1:c.5838T>C	XP_011508219.1:p.Asp1946=
XM_011509918.1:c.5838T>C	XP_011508220.1:p.Asp1946=
XR_921911.1:n.5683T>C
NM_003126.3:c.5838T>C	NP_003117.2:p.Asp1946=
XM_011509916.2:c.5838T>C	XP_011508218.1:p.Asp1946=
XM_011509917.3:c.5838T>C	XP_011508219.1:p.Asp1946=
XM_011509918.3:c.5838T>C	XP_011508220.1:p.Asp1946=
XR_921911.3:n.5696T>C
NM_003126.4:c.5838T>C MANE Select	NP_003117.2:p.Asp1946=