Canonical Allele Identifier: CA2200883042
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177018A= , CM000678.2:g.177018A= GRCh38
NC_000016.9:g.227017A= , CM000678.1:g.227017A= GRCh37
NC_000016.8:g.167017A= NCBI36
NG_000006.1:g.37881A=
NG_059186.1:g.5368A=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.185A= MANE Select ENSP00000322421.5:p.Lys62=
ENST00000397797.1:c.89A= ENSP00000380899.1:p.Lys30=
ENST00000472694.1:n.321A=
ENST00000487791.1:n.154A=
NM_000558.4:c.185A= NP_000549.1:p.Lys62=
NM_000558.5:c.185A= MANE Select NP_000549.1:p.Lys62=