Canonical Allele Identifier: CA125887
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15814
ClinVar RCV Id: RCV000017156
dbSNP Id: rs34776279
MyVariant Identifiers: chr16:g.226797G>A (hg19) chr16:g.176798G>A (hg38)
PubMed: PMID:7338471
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176798G>A , CM000678.2:g.176798G>A GRCh38
NC_000016.9:g.226797G>A , CM000678.1:g.226797G>A GRCh37
NC_000016.8:g.166797G>A NCBI36
NG_000006.1:g.37661G>A
NG_059186.1:g.5148G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.82G>A MANE Select ENSP00000322421.5:p.Glu28Lys
ENST00000397797.1:c.-2+36G>A ENSP00000380899.1:n.-2+36G>A
ENST00000472694.1:n.101G>A
ENST00000487791.1:n.51G>A
NM_000558.4:c.82G>A NP_000549.1:p.Glu28Lys
NM_000558.5:c.82G>A MANE Select NP_000549.1:p.Glu28Lys
Search 100 bp 5'
Search 100 bp 3'