Canonical Allele Identifier: CA1949567106
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226529C= , CM000673.2:g.5226529C= GRCh38
NC_000011.9:g.5247759C= , CM000673.1:g.5247759C= GRCh37
NC_000011.8:g.5204335C= NCBI36
NG_000007.3:g.71087G=
NG_059281.1:g.5543G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+48G= ENSP00000494175.1:n.315+48G=
ENST00000335295.4:c.315+48G= MANE Select ENSP00000333994.3:n.315+48G=
ENST00000475226.1:n.247+48G=
ENST00000485743.1:n.414G=
ENST00000633227.1:c.*131+48G= ENSP00000488004.1:n.*131+48G=
NM_000518.4:c.315+48G= NP_000509.1:n.315+48G=
NM_000518.5:c.315+48G= MANE Select NP_000509.1:n.315+48G=
Search 100 bp 5'
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