Canonical Allele Identifier: CA1201568148
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158685210G= , CM000663.2:g.158685210G= GRCh38
NC_000001.10:g.158655000G= , CM000663.1:g.158655000G= GRCh37
NC_000001.9:g.156921624G= NCBI36
NG_011474.1:g.6507C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.162C= MANE Select ENSP00000495214.1:p.His54=
ENST00000368147.8:c.162C= ENSP00000357129.4:p.His54=
ENST00000467387.1:c.132+30C= ENSP00000476485.1:n.132+30C=
ENST00000614909.4:c.162C= ENSP00000482595.1:p.His54=
NM_003126.2:c.162C= NP_003117.2:p.His54=
XM_011509916.1:c.162C= XP_011508218.1:p.His54=
XM_011509917.1:c.162C= XP_011508219.1:p.His54=
XM_011509918.1:c.162C= XP_011508220.1:p.His54=
XM_011509919.1:c.162C= XP_011508221.1:p.His54=
XR_921911.1:n.275C=
XR_921912.1:n.280C=
NM_003126.3:c.162C= NP_003117.2:p.His54=
XM_011509916.2:c.162C= XP_011508218.1:p.His54=
XM_011509917.3:c.162C= XP_011508219.1:p.His54=
XM_011509918.3:c.162C= XP_011508220.1:p.His54=
XM_011509919.3:c.162C= XP_011508221.1:p.His54=
XR_921911.3:n.288C=
XR_921912.2:n.290C=
NM_003126.4:c.162C= MANE Select NP_003117.2:p.His54=