Canonical Allele Identifier: CA1949566964
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226452A= , CM000673.2:g.5226452A= GRCh38
NC_000011.9:g.5247682A= , CM000673.1:g.5247682A= GRCh37
NC_000011.8:g.5204258A= NCBI36
NG_000007.3:g.71164T=
NG_059281.1:g.5620T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+125T= ENSP00000494175.1:n.315+125T=
ENST00000335295.4:c.315+125T= MANE Select ENSP00000333994.3:n.315+125T=
ENST00000475226.1:n.247+125T=
ENST00000485743.1:n.491T=
ENST00000633227.1:c.*131+125T= ENSP00000488004.1:n.*131+125T=
NM_000518.4:c.315+125T= NP_000509.1:n.315+125T=
NM_000518.5:c.315+125T= MANE Select NP_000509.1:n.315+125T=
Search 100 bp 5'
Search 100 bp 3'