Canonical Allele Identifier: CA2200883254
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177316G= , CM000678.2:g.177316G= GRCh38
NC_000016.9:g.227315G= , CM000678.1:g.227315G= GRCh37
NC_000016.8:g.167315G= NCBI36
NG_000006.1:g.38179G=
NG_059186.1:g.5666G=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.334G= MANE Select ENSP00000322421.5:p.Ala112=
ENST00000397797.1:c.238G= ENSP00000380899.1:p.Ala80=
ENST00000472694.1:n.470G=
NM_000558.4:c.334G= NP_000549.1:p.Ala112=
NM_000558.5:c.334G= MANE Select NP_000549.1:p.Ala112=