Canonical Allele Identifier: CA125466
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15571
ClinVar RCV Id: RCV000016838
dbSNP Id: rs33947457
gnomAD v4: 11-5226990-G-A
MyVariant Identifiers: chr11:g.5248220G>A (hg19) chr11:g.5226990G>A (hg38)
PubMed: PMID:2943700
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226990G>A , CM000673.2:g.5226990G>A GRCh38
NC_000011.9:g.5248220G>A , CM000673.1:g.5248220G>A GRCh37
NC_000011.8:g.5204796G>A NCBI36
NG_000007.3:g.70626C>T
NG_059281.1:g.5082C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.32C>T ENSP00000494175.1:p.Ala11Val
ENST00000335295.4:c.32C>T MANE Select ENSP00000333994.3:p.Ala11Val
ENST00000380315.2:c.32C>T ENSP00000369671.2:p.Ala11Val
ENST00000485743.1:n.83C>T
ENST00000633227.1:c.32C>T ENSP00000488004.1:p.Ala11Val
NM_000518.4:c.32C>T NP_000509.1:p.Ala11Val
NM_000518.5:c.32C>T MANE Select NP_000509.1:p.Ala11Val
Search 100 bp 5'
Search 100 bp 3'