Canonical Allele Identifier: CA125709
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15717
ClinVar RCV Id: RCV000017011
dbSNP Id: rs34259907

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177014A>G , CM000678.2:g.177014A>G GRCh38
NC_000016.9:g.227013A>G , CM000678.1:g.227013A>G GRCh37
NC_000016.8:g.167013A>G NCBI36
NG_000006.1:g.37877A>G
NG_059186.1:g.5364A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.181A>G MANE Select ENSP00000322421.5:p.Lys61Glu
ENST00000397797.1:c.85A>G ENSP00000380899.1:p.Lys29Glu
ENST00000472694.1:n.317A>G
ENST00000487791.1:n.150A>G
NM_000558.4:c.181A>G NP_000549.1:p.Lys61Glu
NM_000558.5:c.181A>G MANE Select NP_000549.1:p.Lys61Glu