Canonical Allele Identifier: CA217113681
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34672591
MyVariant Identifiers: chr11:g.5247857G>C (hg19) chr11:g.5226627G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226627G>C , CM000673.2:g.5226627G>C GRCh38
NC_000011.9:g.5247857G>C , CM000673.1:g.5247857G>C GRCh37
NC_000011.8:g.5204433G>C NCBI36
NG_000007.3:g.70989C>G
NG_059281.1:g.5445C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.265C>G ENSP00000494175.1:p.Leu89Val
ENST00000335295.4:c.265C>G MANE Select ENSP00000333994.3:p.Leu89Val
ENST00000380315.2:c.265C>G ENSP00000369671.2:p.Leu89Val
ENST00000475226.1:n.197C>G
ENST00000485743.1:n.316C>G
ENST00000633227.1:c.*81C>G ENSP00000488004.1:n.*81C>G
NM_000518.4:c.265C>G NP_000509.1:p.Leu89Val
NM_000518.5:c.265C>G MANE Select NP_000509.1:p.Leu89Val
Search 100 bp 5'
Search 100 bp 3'