Canonical Allele Identifier: CA393995166
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176998G>C , CM000678.2:g.176998G>C GRCh38
NC_000016.9:g.226997G>C , CM000678.1:g.226997G>C GRCh37
NC_000016.8:g.166997G>C NCBI36
NG_000006.1:g.37861G>C
NG_059186.1:g.5348G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.165G>C MANE Select ENSP00000322421.5:p.Gln55His
ENST00000397797.1:c.69G>C ENSP00000380899.1:p.Gln23His
ENST00000472694.1:n.301G>C
ENST00000487791.1:n.134G>C
NM_000558.4:c.165G>C NP_000549.1:p.Gln55His
NM_000558.5:c.165G>C MANE Select NP_000549.1:p.Gln55His