Canonical Allele Identifier: CA1949569801
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226818A= , CM000673.2:g.5226818A= GRCh38
NC_000011.9:g.5248048A= , CM000673.1:g.5248048A= GRCh37
NC_000011.8:g.5204624A= NCBI36
NG_000007.3:g.70798T=
NG_059281.1:g.5254T=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-19T= ENSP00000494175.1:n.93-19T=
ENST00000335295.4:c.93-19T= MANE Select ENSP00000333994.3:n.93-19T=
ENST00000380315.2:c.93-19T= ENSP00000369671.2:n.93-19T=
ENST00000475226.1:n.6T=
ENST00000485743.1:n.144-19T=
ENST00000633227.1:c.77-19T= ENSP00000488004.1:n.77-19T=
NM_000518.4:c.93-19T= NP_000509.1:n.93-19T=
NM_000518.5:c.93-19T= MANE Select NP_000509.1:n.93-19T=