Canonical Allele Identifier: CA1949569726
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226801T= , CM000673.2:g.5226801T= GRCh38
NC_000011.9:g.5248031T= , CM000673.1:g.5248031T= GRCh37
NC_000011.8:g.5204607T= NCBI36
NG_000007.3:g.70815A=
NG_059281.1:g.5271A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.93-2A= ENSP00000494175.1:n.93-2A=
ENST00000335295.4:c.93-2A= MANE Select ENSP00000333994.3:n.93-2A=
ENST00000380315.2:c.93-2A= ENSP00000369671.2:n.93-2A=
ENST00000475226.1:n.23A=
ENST00000485743.1:n.144-2A=
ENST00000633227.1:c.77-2A= ENSP00000488004.1:n.77-2A=
NM_000518.4:c.93-2A= NP_000509.1:n.93-2A=
NM_000518.5:c.93-2A= MANE Select NP_000509.1:n.93-2A=