Canonical Allele Identifier: CA1949569925
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226873C= , CM000673.2:g.5226873C= GRCh38
NC_000011.9:g.5248103C= , CM000673.1:g.5248103C= GRCh37
NC_000011.8:g.5204679C= NCBI36
NG_000007.3:g.70743G=
NG_059281.1:g.5199G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.92+57G= ENSP00000494175.1:n.92+57G=
ENST00000335295.4:c.92+57G= MANE Select ENSP00000333994.3:n.92+57G=
ENST00000380315.2:c.92+57G= ENSP00000369671.2:n.92+57G=
ENST00000485743.1:n.143+57G=
ENST00000633227.1:c.77-74G= ENSP00000488004.1:n.77-74G=
NM_000518.4:c.92+57G= NP_000509.1:n.92+57G=
NM_000518.5:c.92+57G= MANE Select NP_000509.1:n.92+57G=
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