Canonical Allele Identifier: CA1949563656
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225466G= , CM000673.2:g.5225466G= GRCh38
NC_000011.9:g.5246696G= , CM000673.1:g.5246696G= GRCh37
NC_000011.8:g.5203272G= NCBI36
NG_000007.3:g.72150C=
NG_059281.1:g.6606C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*132C= ENSP00000494175.1:n.*132C=
ENST00000335295.4:c.*132C= MANE Select ENSP00000333994.3:n.*132C=
NM_000518.4:c.*132C= NP_000509.1:n.*132C=
NM_000518.5:c.*132C= MANE Select NP_000509.1:n.*132C=
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