Canonical Allele Identifier: CA393995138
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176988G>T , CM000678.2:g.176988G>T GRCh38
NC_000016.9:g.226987G>T , CM000678.1:g.226987G>T GRCh37
NC_000016.8:g.166987G>T NCBI36
NG_000006.1:g.37851G>T
NG_059186.1:g.5338G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.155G>T MANE Select ENSP00000322421.5:p.Gly52Val
ENST00000397797.1:c.59G>T ENSP00000380899.1:p.Gly20Val
ENST00000472694.1:n.291G>T
ENST00000487791.1:n.124G>T
NM_000558.4:c.155G>T NP_000549.1:p.Gly52Val
NM_000558.5:c.155G>T MANE Select NP_000549.1:p.Gly52Val