Canonical Allele Identifier: CA125775
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15754
ClinVar RCV Id: RCV000017064
dbSNP Id: rs3180281
gnomAD v4: 16-177048-C-A
MyVariant Identifiers: chr16:g.227047C>A (hg19) chr16:g.177048C>A (hg38)
PubMed: PMID:4834679 PMID:6618889
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177048C>A , CM000678.2:g.177048C>A GRCh38
NC_000016.9:g.227047C>A , CM000678.1:g.227047C>A GRCh37
NC_000016.8:g.167047C>A NCBI36
NG_000006.1:g.37911C>A
NG_059186.1:g.5398C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.215C>A MANE Select ENSP00000322421.5:p.Ala72Glu
ENST00000397797.1:c.119C>A ENSP00000380899.1:p.Ala40Glu
ENST00000472694.1:n.351C>A
ENST00000487791.1:n.184C>A
NM_000558.4:c.215C>A NP_000549.1:p.Ala72Glu
NM_000558.5:c.215C>A MANE Select NP_000549.1:p.Ala72Glu
Search 100 bp 5'
Search 100 bp 3'