Canonical Allele Identifier: CA1949566710
Gene: HBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226354T= , CM000673.2:g.5226354T= GRCh38
NC_000011.9:g.5247584T= , CM000673.1:g.5247584T= GRCh37
NC_000011.8:g.5204160T= NCBI36
NG_000007.3:g.71262A=
NG_059281.1:g.5718A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+223A= ENSP00000494175.1:n.315+223A=
ENST00000335295.4:c.315+223A= MANE Select ENSP00000333994.3:n.315+223A=
ENST00000475226.1:n.247+223A=
ENST00000485743.1:n.589A=
ENST00000633227.1:c.*131+223A= ENSP00000488004.1:n.*131+223A=
NM_000518.4:c.315+223A= NP_000509.1:n.315+223A=
NM_000518.5:c.315+223A= MANE Select NP_000509.1:n.315+223A=
Search 100 bp 5'
Search 100 bp 3'