Canonical Allele Identifier: CA2200883264
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177325C= , CM000678.2:g.177325C= GRCh38
NC_000016.9:g.227324C= , CM000678.1:g.227324C= GRCh37
NC_000016.8:g.167324C= NCBI36
NG_000006.1:g.38188C=
NG_059186.1:g.5675C=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.343C= MANE Select ENSP00000322421.5:p.Pro115=
ENST00000397797.1:c.247C= ENSP00000380899.1:p.Pro83=
ENST00000472694.1:n.479C=
NM_000558.4:c.343C= NP_000549.1:p.Pro115=
NM_000558.5:c.343C= MANE Select NP_000549.1:p.Pro115=