Canonical Allele Identifier: CA125022
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15263
ClinVar RCV Id: RCV000016487
dbSNP Id: rs35094013
MyVariant Identifiers: chr11:g.5247955A>T (hg19) chr11:g.5226725A>T (hg38)
PubMed: PMID:2384311
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226725A>T , CM000673.2:g.5226725A>T GRCh38
NC_000011.9:g.5247955A>T , CM000673.1:g.5247955A>T GRCh37
NC_000011.8:g.5204531A>T NCBI36
NG_000007.3:g.70891T>A
NG_059281.1:g.5347T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.167T>A ENSP00000494175.1:p.Met56Lys
ENST00000335295.4:c.167T>A MANE Select ENSP00000333994.3:p.Met56Lys
ENST00000380315.2:c.167T>A ENSP00000369671.2:p.Met56Lys
ENST00000475226.1:n.99T>A
ENST00000485743.1:n.218T>A
ENST00000633227.1:c.151T>A ENSP00000488004.1:p.Trp51Arg
NM_000518.4:c.167T>A NP_000509.1:p.Met56Lys
NM_000518.5:c.167T>A MANE Select NP_000509.1:p.Met56Lys
Search 100 bp 5'
Search 100 bp 3'