Canonical Allele Identifier: CA1949566132
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226065G= , CM000673.2:g.5226065G= GRCh38
NC_000011.9:g.5247295G= , CM000673.1:g.5247295G= GRCh37
NC_000011.8:g.5203871G= NCBI36
NG_000007.3:g.71551C=
NG_059281.1:g.6007C=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316-339C= ENSP00000494175.1:n.316-339C=
ENST00000335295.4:c.316-339C= MANE Select ENSP00000333994.3:n.316-339C=
ENST00000475226.1:n.248-339C=
ENST00000633227.1:c.*132-339C= ENSP00000488004.1:n.*132-339C=
NM_000518.4:c.316-339C= NP_000509.1:n.316-339C=
NM_000518.5:c.316-339C= MANE Select NP_000509.1:n.316-339C=
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