Canonical Allele Identifier: CA125929
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15837
ClinVar RCV Id: RCV000017182
dbSNP Id: rs281860657
MyVariant Identifiers: chr16:g.227003G>C (hg19) chr16:g.177004G>C (hg38)
PubMed: PMID:2347082
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177004G>C , CM000678.2:g.177004G>C GRCh38
NC_000016.9:g.227003G>C , CM000678.1:g.227003G>C GRCh37
NC_000016.8:g.167003G>C NCBI36
NG_000006.1:g.37867G>C
NG_059186.1:g.5354G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.171G>C MANE Select ENSP00000322421.5:p.Lys57Asn
ENST00000397797.1:c.75G>C ENSP00000380899.1:p.Lys25Asn
ENST00000472694.1:n.307G>C
ENST00000487791.1:n.140G>C
NM_000558.4:c.171G>C NP_000549.1:p.Lys57Asn
NM_000558.5:c.171G>C MANE Select NP_000549.1:p.Lys57Asn
Search 100 bp 5'
Search 100 bp 3'