Canonical Allele Identifier: CA1949566880
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226404G= , CM000673.2:g.5226404G= GRCh38
NC_000011.9:g.5247634G= , CM000673.1:g.5247634G= GRCh37
NC_000011.8:g.5204210G= NCBI36
NG_000007.3:g.71212C=
NG_059281.1:g.5668C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+173C= ENSP00000494175.1:n.315+173C=
ENST00000335295.4:c.315+173C= MANE Select ENSP00000333994.3:n.315+173C=
ENST00000475226.1:n.247+173C=
ENST00000485743.1:n.539C=
ENST00000633227.1:c.*131+173C= ENSP00000488004.1:n.*131+173C=
NM_000518.4:c.315+173C= NP_000509.1:n.315+173C=
NM_000518.5:c.315+173C= MANE Select NP_000509.1:n.315+173C=
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