Canonical Allele Identifier: CA125821
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15780
ClinVar RCV Id: RCV000017107
dbSNP Id: rs33977363
gnomAD v4: 16-177059-G-A
MyVariant Identifiers: chr16:g.227058G>A (hg19) chr16:g.177059G>A (hg38)
PubMed: PMID:893135 PMID:2703370
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177059G>A , CM000678.2:g.177059G>A GRCh38
NC_000016.9:g.227058G>A , CM000678.1:g.227058G>A GRCh37
NC_000016.8:g.167058G>A NCBI36
NG_000006.1:g.37922G>A
NG_059186.1:g.5409G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.226G>A MANE Select ENSP00000322421.5:p.Asp76Asn
ENST00000397797.1:c.130G>A ENSP00000380899.1:p.Asp44Asn
ENST00000472694.1:n.362G>A
ENST00000487791.1:n.195G>A
NM_000558.4:c.226G>A NP_000549.1:p.Asp76Asn
NM_000558.5:c.226G>A MANE Select NP_000549.1:p.Asp76Asn
Search 100 bp 5'
Search 100 bp 3'