Canonical Allele Identifier: CA2522131063
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226457T>G , CM000673.2:g.5226457T>G GRCh38
NC_000011.9:g.5247687T>G , CM000673.1:g.5247687T>G GRCh37
NC_000011.8:g.5204263T>G NCBI36
NG_000007.3:g.71159A>C
NG_059281.1:g.5615A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+120A>C ENSP00000494175.1:n.315+120A>C
ENST00000335295.4:c.315+120A>C MANE Select ENSP00000333994.3:n.315+120A>C
ENST00000475226.1:n.247+120A>C
ENST00000485743.1:n.486A>C
ENST00000633227.1:c.*131+120A>C ENSP00000488004.1:n.*131+120A>C
NM_000518.4:c.315+120A>C NP_000509.1:n.315+120A>C
NM_000518.5:c.315+120A>C MANE Select NP_000509.1:n.315+120A>C
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