Canonical Allele Identifier: CA393995621
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177123T>C , CM000678.2:g.177123T>C GRCh38
NC_000016.9:g.227122T>C , CM000678.1:g.227122T>C GRCh37
NC_000016.8:g.167122T>C NCBI36
NG_000006.1:g.37986T>C
NG_059186.1:g.5473T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.290T>C MANE Select ENSP00000322421.5:p.Val97Ala
ENST00000397797.1:c.194T>C ENSP00000380899.1:p.Val65Ala
ENST00000472694.1:n.426T>C
ENST00000487791.1:n.259T>C
NM_000558.4:c.290T>C NP_000549.1:p.Val97Ala
NM_000558.5:c.290T>C MANE Select NP_000549.1:p.Val97Ala