Canonical Allele Identifier: CA125921
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15832
ClinVar RCV Id: RCV000017177 RCV001811182
dbSNP Id: rs35932809
ExAC: 16:227331 A / C
gnomAD v2: 16-227331-A-C
MyVariant Identifiers: chr16:g.227331A>C (hg19) chr16:g.177332A>C (hg38)
PubMed: PMID:640856
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177332A>C , CM000678.2:g.177332A>C GRCh38
NC_000016.9:g.227331A>C , CM000678.1:g.227331A>C GRCh37
NC_000016.8:g.167331A>C NCBI36
NG_000006.1:g.38195A>C
NG_059186.1:g.5682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.350A>C MANE Select ENSP00000322421.5:p.Glu117Ala
ENST00000397797.1:c.254A>C ENSP00000380899.1:p.Glu85Ala
ENST00000472694.1:n.486A>C
NM_000558.4:c.350A>C NP_000549.1:p.Glu117Ala
NM_000558.5:c.350A>C MANE Select NP_000549.1:p.Glu117Ala
Search 100 bp 5'
Search 100 bp 3'