Canonical Allele Identifier: CA1949565702
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225823A= , CM000673.2:g.5225823A= GRCh38
NC_000011.9:g.5247053A= , CM000673.1:g.5247053A= GRCh37
NC_000011.8:g.5203629A= NCBI36
NG_000007.3:g.71793T=
NG_059281.1:g.6249T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-97T= ENSP00000494175.1:n.316-97T=
ENST00000335295.4:c.316-97T= MANE Select ENSP00000333994.3:n.316-97T=
ENST00000475226.1:n.248-97T=
ENST00000633227.1:c.*132-97T= ENSP00000488004.1:n.*132-97T=
NM_000518.4:c.316-97T= NP_000509.1:n.316-97T=
NM_000518.5:c.316-97T= MANE Select NP_000509.1:n.316-97T=