Canonical Allele Identifier: CA1201541295
Community Standard Title: NM_003126.4(SPTA1):c.5950A= (p.Arg1984=)
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158623153T= , CM000663.2:g.158623153T= GRCh38
NC_000001.10:g.158592943T= , CM000663.1:g.158592943T= GRCh37
NC_000001.9:g.156859567T= NCBI36
NG_011474.1:g.68564A=

Transcript Alleles

HGVS Amino-acid Change
NM_003126.4:c.5950A= MANE Select NP_003117.2:p.Arg1984=
ENST00000643759.2:c.5950A= MANE Select ENSP00000495214.1:p.Arg1984=
NM_003126.2:c.5950A= NP_003117.2:p.Arg1984=
NM_003126.3:c.5950A= NP_003117.2:p.Arg1984=
ENST00000368147.8:c.5950A= ENSP00000357129.4:p.Arg1984=
ENST00000461624.1:n.496A=
ENST00000614909.4:c.5950A= ENSP00000482595.1:p.Arg1984=
XM_011509916.1:c.5950A= XP_011508218.1:p.Arg1984=
XM_011509916.2:c.5950A= XP_011508218.1:p.Arg1984=
XM_011509917.1:c.5950A= XP_011508219.1:p.Arg1984=
XM_011509917.3:c.5950A= XP_011508219.1:p.Arg1984=
XM_011509918.1:c.5950A= XP_011508220.1:p.Arg1984=
XM_011509918.3:c.5950A= XP_011508220.1:p.Arg1984=
XR_921911.1:n.5795A=
XR_921911.3:n.5808A=