Canonical Allele Identifier: CA379273706
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246904A>C (hg19) chr11:g.5225674A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225674A>C , CM000673.2:g.5225674A>C GRCh38
NC_000011.9:g.5246904A>C , CM000673.1:g.5246904A>C GRCh37
NC_000011.8:g.5203480A>C NCBI36
NG_000007.3:g.71942T>G
NG_059281.1:g.6398T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.368T>G ENSP00000494175.1:p.Phe123Cys
ENST00000335295.4:c.368T>G MANE Select ENSP00000333994.3:p.Phe123Cys
ENST00000475226.1:n.300T>G
ENST00000633227.1:c.*184T>G ENSP00000488004.1:n.*184T>G
NM_000518.4:c.368T>G NP_000509.1:p.Phe123Cys
NM_000518.5:c.368T>G MANE Select NP_000509.1:p.Phe123Cys
Search 100 bp 5'
Search 100 bp 3'