Canonical Allele Identifier: CA2200883020
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176994C= , CM000678.2:g.176994C= GRCh38
NC_000016.9:g.226993C= , CM000678.1:g.226993C= GRCh37
NC_000016.8:g.166993C= NCBI36
NG_000006.1:g.37857C=
NG_059186.1:g.5344C=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.161C= MANE Select ENSP00000322421.5:p.Ala54=
ENST00000397797.1:c.65C= ENSP00000380899.1:p.Ala22=
ENST00000472694.1:n.297C=
ENST00000487791.1:n.130C=
NM_000558.4:c.161C= NP_000549.1:p.Ala54=
NM_000558.5:c.161C= MANE Select NP_000549.1:p.Ala54=