Canonical Allele Identifier: CA1949570112
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226917C= , CM000673.2:g.5226917C= GRCh38
NC_000011.9:g.5248147C= , CM000673.1:g.5248147C= GRCh37
NC_000011.8:g.5204723C= NCBI36
NG_000007.3:g.70699G=
NG_059281.1:g.5155G=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+13G= ENSP00000494175.1:n.92+13G=
ENST00000335295.4:c.92+13G= MANE Select ENSP00000333994.3:n.92+13G=
ENST00000380315.2:c.92+13G= ENSP00000369671.2:n.92+13G=
ENST00000485743.1:n.143+13G=
ENST00000633227.1:c.76+29G= ENSP00000488004.1:n.76+29G=
NM_000518.4:c.92+13G= NP_000509.1:n.92+13G=
NM_000518.5:c.92+13G= MANE Select NP_000509.1:n.92+13G=
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