Canonical Allele Identifier: CA1949566335
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226173A= , CM000673.2:g.5226173A= GRCh38
NC_000011.9:g.5247403A= , CM000673.1:g.5247403A= GRCh37
NC_000011.8:g.5203979A= NCBI36
NG_000007.3:g.71443T=
NG_059281.1:g.5899T=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+404T= ENSP00000494175.1:n.315+404T=
ENST00000335295.4:c.315+404T= MANE Select ENSP00000333994.3:n.315+404T=
ENST00000475226.1:n.247+404T=
ENST00000633227.1:c.*131+404T= ENSP00000488004.1:n.*131+404T=
NM_000518.4:c.315+404T= NP_000509.1:n.315+404T=
NM_000518.5:c.315+404T= MANE Select NP_000509.1:n.315+404T=
Search 100 bp 5'
Search 100 bp 3'