Canonical Allele Identifier: CA124726
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15097
ClinVar RCV Id: RCV000016250
dbSNP Id: rs33947457
MyVariant Identifiers: chr11:g.5248220G>T (hg19) chr11:g.5226990G>T (hg38)
PubMed: PMID:4850241 PMID:6874374
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.32C>A ENSP00000494175.1:p.Ala11Asp
ENST00000335295.4:c.32C>A MANE Select ENSP00000333994.3:p.Ala11Asp
ENST00000380315.2:c.32C>A ENSP00000369671.2:p.Ala11Asp
ENST00000485743.1:n.83C>A
ENST00000633227.1:c.32C>A ENSP00000488004.1:p.Ala11Asp
NM_000518.4:c.32C>A NP_000509.1:p.Ala11Asp
NM_000518.5:c.32C>A MANE Select NP_000509.1:p.Ala11Asp
Search 100 bp 5'
Search 100 bp 3'