Canonical Allele Identifier: CA125885
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15813
dbSNP Id: rs36024711

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176997A>G , CM000678.2:g.176997A>G GRCh38
NC_000016.9:g.226996A>G , CM000678.1:g.226996A>G GRCh37
NC_000016.8:g.166996A>G NCBI36
NG_000006.1:g.37860A>G
NG_059186.1:g.5347A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.164A>G MANE Select ENSP00000322421.5:p.Gln55Arg
ENST00000397797.1:c.68A>G ENSP00000380899.1:p.Gln23Arg
ENST00000472694.1:n.300A>G
ENST00000487791.1:n.133A>G
NM_000558.4:c.164A>G NP_000549.1:p.Gln55Arg
NM_000558.5:c.164A>G MANE Select NP_000549.1:p.Gln55Arg