Canonical Allele Identifier: CA393995516
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177092C>A , CM000678.2:g.177092C>A GRCh38
NC_000016.9:g.227091C>A , CM000678.1:g.227091C>A GRCh37
NC_000016.8:g.167091C>A NCBI36
NG_000006.1:g.37955C>A
NG_059186.1:g.5442C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.259C>A MANE Select ENSP00000322421.5:p.Leu87Met
ENST00000397797.1:c.163C>A ENSP00000380899.1:p.Leu55Met
ENST00000472694.1:n.395C>A
ENST00000487791.1:n.228C>A
NM_000558.4:c.259C>A NP_000549.1:p.Leu87Met
NM_000558.5:c.259C>A MANE Select NP_000549.1:p.Leu87Met