Canonical Allele Identifier: CA276417212
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs63751204

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177363C>G , CM000678.2:g.177363C>G GRCh38
NC_000016.9:g.227362C>G , CM000678.1:g.227362C>G GRCh37
NC_000016.8:g.167362C>G NCBI36
NG_000006.1:g.38226C>G
NG_059186.1:g.5713C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.381C>G MANE Select ENSP00000322421.5:p.Asp127Glu
ENST00000397797.1:c.285C>G ENSP00000380899.1:p.Asp95Glu
ENST00000472694.1:n.517C>G
NM_000558.4:c.381C>G NP_000549.1:p.Asp127Glu
NM_000558.5:c.381C>G MANE Select NP_000549.1:p.Asp127Glu