Canonical Allele Identifier: CA1201536934
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612911T= , CM000663.2:g.158612911T= GRCh38
NC_000001.10:g.158582701T= , CM000663.1:g.158582701T= GRCh37
NC_000001.9:g.156849325T= NCBI36
NG_011474.1:g.78806A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7040A= MANE Select ENSP00000495214.1:p.Glu2347=
ENST00000368147.8:c.7040A= ENSP00000357129.4:p.Glu2347=
ENST00000481212.5:n.481A=
ENST00000498708.1:n.472A=
ENST00000614909.4:c.7040A= ENSP00000482595.1:p.Glu2347=
NM_003126.2:c.7040A= NP_003117.2:p.Glu2347=
XM_011509916.1:c.7040A= XP_011508218.1:p.Glu2347=
XM_011509917.1:c.7022A= XP_011508219.1:p.Glu2341=
NM_003126.3:c.7040A= NP_003117.2:p.Glu2347=
XM_011509916.2:c.7040A= XP_011508218.1:p.Glu2347=
XM_011509917.3:c.7022A= XP_011508219.1:p.Glu2341=
NM_003126.4:c.7040A= MANE Select NP_003117.2:p.Glu2347=