Canonical Allele Identifier: CA1949571218
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227014T= , CM000673.2:g.5227014T= GRCh38
NC_000011.9:g.5248244T= , CM000673.1:g.5248244T= GRCh37
NC_000011.8:g.5204820T= NCBI36
NG_000007.3:g.70602A=
NG_059281.1:g.5058A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.8A= ENSP00000494175.1:p.His3=
ENST00000335295.4:c.8A= MANE Select ENSP00000333994.3:p.His3=
ENST00000380315.2:c.8A= ENSP00000369671.2:p.His3=
ENST00000485743.1:n.59A=
ENST00000633227.1:c.8A= ENSP00000488004.1:p.His3=
NM_000518.4:c.8A= NP_000509.1:p.His3=
NM_000518.5:c.8A= MANE Select NP_000509.1:p.His3=