Canonical Allele Identifier: CA343026736
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433756
ClinVar RCV Id: RCV003132655

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158685238C>G , CM000663.2:g.158685238C>G GRCh38
NC_000001.10:g.158655028C>G , CM000663.1:g.158655028C>G GRCh37
NC_000001.9:g.156921652C>G NCBI36
NG_011474.1:g.6479G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.134G>C MANE Select ENSP00000495214.1:p.Arg45Thr
ENST00000368147.8:c.134G>C ENSP00000357129.4:p.Arg45Thr
ENST00000467387.1:c.132+2G>C ENSP00000476485.1:n.132+2G>C
ENST00000614909.4:c.134G>C ENSP00000482595.1:p.Arg45Thr
NM_003126.2:c.134G>C NP_003117.2:p.Arg45Thr
XM_011509916.1:c.134G>C XP_011508218.1:p.Arg45Thr
XM_011509917.1:c.134G>C XP_011508219.1:p.Arg45Thr
XM_011509918.1:c.134G>C XP_011508220.1:p.Arg45Thr
XM_011509919.1:c.134G>C XP_011508221.1:p.Arg45Thr
XR_921911.1:n.247G>C
XR_921912.1:n.252G>C
NM_003126.3:c.134G>C NP_003117.2:p.Arg45Thr
XM_011509916.2:c.134G>C XP_011508218.1:p.Arg45Thr
XM_011509917.3:c.134G>C XP_011508219.1:p.Arg45Thr
XM_011509918.3:c.134G>C XP_011508220.1:p.Arg45Thr
XM_011509919.3:c.134G>C XP_011508221.1:p.Arg45Thr
XR_921911.3:n.260G>C
XR_921912.2:n.262G>C
NM_003126.4:c.134G>C MANE Select NP_003117.2:p.Arg45Thr