Canonical Allele Identifier: CA379273760
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247811A>C (hg19) chr11:g.5226581A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226581A>C , CM000673.2:g.5226581A>C GRCh38
NC_000011.9:g.5247811A>C , CM000673.1:g.5247811A>C GRCh37
NC_000011.8:g.5204387A>C NCBI36
NG_000007.3:g.71035T>G
NG_059281.1:g.5491T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.311T>G ENSP00000494175.1:p.Phe104Cys
ENST00000335295.4:c.311T>G MANE Select ENSP00000333994.3:p.Phe104Cys
ENST00000475226.1:n.243T>G
ENST00000485743.1:n.362T>G
ENST00000633227.1:c.*127T>G ENSP00000488004.1:n.*127T>G
NM_000518.4:c.311T>G NP_000509.1:p.Phe104Cys
NM_000518.5:c.311T>G MANE Select NP_000509.1:p.Phe104Cys
Search 100 bp 5'
Search 100 bp 3'