Canonical Allele Identifier: CA125795
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15766
ClinVar RCV Id: RCV000017077
dbSNP Id: rs63749865
gnomAD v3: 16-177366-G-C
gnomAD v4: 16-177366-G-C
MyVariant Identifiers: chr16:g.227365G>C (hg19) chr16:g.177366G>C (hg38)
PubMed: PMID:949045
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177366G>C , CM000678.2:g.177366G>C GRCh38
NC_000016.9:g.227365G>C , CM000678.1:g.227365G>C GRCh37
NC_000016.8:g.167365G>C NCBI36
NG_000006.1:g.38229G>C
NG_059186.1:g.5716G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.384G>C MANE Select ENSP00000322421.5:p.Lys128Asn
ENST00000397797.1:c.288G>C ENSP00000380899.1:p.Lys96Asn
ENST00000472694.1:n.520G>C
NM_000558.4:c.384G>C NP_000549.1:p.Lys128Asn
NM_000558.5:c.384G>C MANE Select NP_000549.1:p.Lys128Asn
Search 100 bp 5'
Search 100 bp 3'