Canonical Allele Identifier: CA125364
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15502
ClinVar RCV Id: RCV000016764
dbSNP Id: rs33932908
MyVariant Identifiers: chr11:g.5246934C>T (hg19) chr11:g.5225704C>T (hg38)
PubMed: PMID:1787097
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225704C>T , CM000673.2:g.5225704C>T GRCh38
NC_000011.9:g.5246934C>T , CM000673.1:g.5246934C>T GRCh37
NC_000011.8:g.5203510C>T NCBI36
NG_000007.3:g.71912G>A
NG_059281.1:g.6368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.338G>A ENSP00000494175.1:p.Cys113Tyr
ENST00000335295.4:c.338G>A MANE Select ENSP00000333994.3:p.Cys113Tyr
ENST00000475226.1:n.270G>A
ENST00000633227.1:c.*154G>A ENSP00000488004.1:n.*154G>A
NM_000518.4:c.338G>A NP_000509.1:p.Cys113Tyr
NM_000518.5:c.338G>A MANE Select NP_000509.1:p.Cys113Tyr
Search 100 bp 5'
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