Canonical Allele Identifier: CA126001
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15877
ClinVar RCV Id: RCV000017223
dbSNP Id: rs34068598
MyVariant Identifiers: chr16:g.226998G>C (hg19) chr16:g.176999G>C (hg38)
PubMed: PMID:10569725
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176999G>C , CM000678.2:g.176999G>C GRCh38
NC_000016.9:g.226998G>C , CM000678.1:g.226998G>C GRCh37
NC_000016.8:g.166998G>C NCBI36
NG_000006.1:g.37862G>C
NG_059186.1:g.5349G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.166G>C MANE Select ENSP00000322421.5:p.Val56Leu
ENST00000397797.1:c.70G>C ENSP00000380899.1:p.Val24Leu
ENST00000472694.1:n.302G>C
ENST00000487791.1:n.135G>C
NM_000558.4:c.166G>C NP_000549.1:p.Val56Leu
NM_000558.5:c.166G>C MANE Select NP_000549.1:p.Val56Leu
Search 100 bp 5'
Search 100 bp 3'