Canonical Allele Identifier: CA1142150976
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158685148A= , CM000663.2:g.158685148A= GRCh38
NC_000001.10:g.158654938A= , CM000663.1:g.158654938A= GRCh37
NC_000001.9:g.156921562A= NCBI36
NG_011474.1:g.6569T=

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.224T= MANE Select ENSP00000495214.1:p.Ile75=
ENST00000368147.8:c.224T= ENSP00000357129.4:p.Ile75=
ENST00000467387.1:c.132+92T= ENSP00000476485.1:n.132+92T=
ENST00000614909.4:c.224T= ENSP00000482595.1:p.Ile75=
NM_003126.2:c.224T= NP_003117.2:p.Ile75=
XM_011509916.1:c.224T= XP_011508218.1:p.Ile75=
XM_011509917.1:c.224T= XP_011508219.1:p.Ile75=
XM_011509918.1:c.224T= XP_011508220.1:p.Ile75=
XM_011509919.1:c.224T= XP_011508221.1:p.Ile75=
XR_921911.1:n.337T=
XR_921912.1:n.342T=
NM_003126.3:c.224T= NP_003117.2:p.Ile75=
XM_011509916.2:c.224T= XP_011508218.1:p.Ile75=
XM_011509917.3:c.224T= XP_011508219.1:p.Ile75=
XM_011509918.3:c.224T= XP_011508220.1:p.Ile75=
XM_011509919.3:c.224T= XP_011508221.1:p.Ile75=
XR_921911.3:n.350T=
XR_921912.2:n.352T=
NM_003126.4:c.224T= MANE Select NP_003117.2:p.Ile75=