Canonical Allele Identifier: CA125927
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15836
ClinVar RCV Id: RCV000017181
dbSNP Id: rs281860659
MyVariant Identifiers: chr16:g.227015G>A (hg19) chr16:g.177016G>A (hg38)
PubMed: PMID:5356548
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177016G>A , CM000678.2:g.177016G>A GRCh38
NC_000016.9:g.227015G>A , CM000678.1:g.227015G>A GRCh37
NC_000016.8:g.167015G>A NCBI36
NG_000006.1:g.37879G>A
NG_059186.1:g.5366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.183G>A MANE Select ENSP00000322421.5:p.Lys61=
ENST00000397797.1:c.87G>A ENSP00000380899.1:p.Lys29=
ENST00000472694.1:n.319G>A
ENST00000487791.1:n.152G>A
NM_000558.4:c.183G>A NP_000549.1:p.Lys61=
NM_000558.5:c.183G>A MANE Select NP_000549.1:p.Lys61=
Search 100 bp 5'
Search 100 bp 3'