Canonical Allele Identifier: CA276417150
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs34472107
gnomAD v4: 16-177325-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177325C>G , CM000678.2:g.177325C>G GRCh38
NC_000016.9:g.227324C>G , CM000678.1:g.227324C>G GRCh37
NC_000016.8:g.167324C>G NCBI36
NG_000006.1:g.38188C>G
NG_059186.1:g.5675C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.343C>G MANE Select ENSP00000322421.5:p.Pro115Ala
ENST00000397797.1:c.247C>G ENSP00000380899.1:p.Pro83Ala
ENST00000472694.1:n.479C>G
NM_000558.4:c.343C>G NP_000549.1:p.Pro115Ala
NM_000558.5:c.343C>G MANE Select NP_000549.1:p.Pro115Ala