Canonical Allele Identifier: CA1201536938
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612922C= , CM000663.2:g.158612922C= GRCh38
NC_000001.10:g.158582712C= , CM000663.1:g.158582712C= GRCh37
NC_000001.9:g.156849336C= NCBI36
NG_011474.1:g.78795G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7029G= MANE Select ENSP00000495214.1:p.Leu2343=
ENST00000368147.8:c.7029G= ENSP00000357129.4:p.Leu2343=
ENST00000481212.5:n.470G=
ENST00000498708.1:n.461G=
ENST00000614909.4:c.7029G= ENSP00000482595.1:p.Leu2343=
NM_003126.2:c.7029G= NP_003117.2:p.Leu2343=
XM_011509916.1:c.7029G= XP_011508218.1:p.Leu2343=
XM_011509917.1:c.7011G= XP_011508219.1:p.Leu2337=
NM_003126.3:c.7029G= NP_003117.2:p.Leu2343=
XM_011509916.2:c.7029G= XP_011508218.1:p.Leu2343=
XM_011509917.3:c.7011G= XP_011508219.1:p.Leu2337=
NM_003126.4:c.7029G= MANE Select NP_003117.2:p.Leu2343=