Canonical Allele Identifier: CA1949566789
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226368A= , CM000673.2:g.5226368A= GRCh38
NC_000011.9:g.5247598A= , CM000673.1:g.5247598A= GRCh37
NC_000011.8:g.5204174A= NCBI36
NG_000007.3:g.71248T=
NG_059281.1:g.5704T=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+209T= ENSP00000494175.1:n.315+209T=
ENST00000335295.4:c.315+209T= MANE Select ENSP00000333994.3:n.315+209T=
ENST00000475226.1:n.247+209T=
ENST00000485743.1:n.575T=
ENST00000633227.1:c.*131+209T= ENSP00000488004.1:n.*131+209T=
NM_000518.4:c.315+209T= NP_000509.1:n.315+209T=
NM_000518.5:c.315+209T= MANE Select NP_000509.1:n.315+209T=
Search 100 bp 5'
Search 100 bp 3'