Canonical Allele Identifier: CA276417300
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs33973086

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177400A>G , CM000678.2:g.177400A>G GRCh38
NC_000016.9:g.227399A>G , CM000678.1:g.227399A>G GRCh37
NC_000016.8:g.167399A>G NCBI36
NG_000006.1:g.38263A>G
NG_059186.1:g.5750A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.418A>G MANE Select ENSP00000322421.5:p.Lys140Glu
ENST00000397797.1:c.322A>G ENSP00000380899.1:p.Lys108Glu
ENST00000472694.1:n.554A>G
NM_000558.4:c.418A>G NP_000549.1:p.Lys140Glu
NM_000558.5:c.418A>G MANE Select NP_000549.1:p.Lys140Glu