Canonical Allele Identifier: CA125672
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15698
ClinVar RCV Id: RCV000016990
dbSNP Id: rs34071856
MyVariant Identifiers: chr16:g.227074T>G (hg19) chr16:g.177075T>G (hg38)
PubMed: PMID:4530655 PMID:5033650
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177075T>G , CM000678.2:g.177075T>G GRCh38
NC_000016.9:g.227074T>G , CM000678.1:g.227074T>G GRCh37
NC_000016.8:g.167074T>G NCBI36
NG_000006.1:g.37938T>G
NG_059186.1:g.5425T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.242T>G MANE Select ENSP00000322421.5:p.Leu81Arg
ENST00000397797.1:c.146T>G ENSP00000380899.1:p.Leu49Arg
ENST00000472694.1:n.378T>G
ENST00000487791.1:n.211T>G
NM_000558.4:c.242T>G NP_000549.1:p.Leu81Arg
NM_000558.5:c.242T>G MANE Select NP_000549.1:p.Leu81Arg
Search 100 bp 5'
Search 100 bp 3'