Canonical Allele Identifier: CA2790275060
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225515C>G , CM000673.2:g.5225515C>G GRCh38
NC_000011.9:g.5246745C>G , CM000673.1:g.5246745C>G GRCh37
NC_000011.8:g.5203321C>G NCBI36
NG_000007.3:g.72101G>C
NG_059281.1:g.6557G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*83G>C ENSP00000494175.1:n.*83G>C
ENST00000335295.4:c.*83G>C MANE Select ENSP00000333994.3:n.*83G>C
ENST00000633227.1:c.*343G>C ENSP00000488004.1:n.*343G>C
NM_000518.4:c.*83G>C NP_000509.1:n.*83G>C
NM_000518.5:c.*83G>C MANE Select NP_000509.1:n.*83G>C
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