Canonical Allele Identifier: CA1949566144
Gene: HBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226082A= , CM000673.2:g.5226082A= GRCh38
NC_000011.9:g.5247312A= , CM000673.1:g.5247312A= GRCh37
NC_000011.8:g.5203888A= NCBI36
NG_000007.3:g.71534T=
NG_059281.1:g.5990T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-356T= ENSP00000494175.1:n.316-356T=
ENST00000335295.4:c.316-356T= MANE Select ENSP00000333994.3:n.316-356T=
ENST00000475226.1:n.248-356T=
ENST00000633227.1:c.*132-356T= ENSP00000488004.1:n.*132-356T=
NM_000518.4:c.316-356T= NP_000509.1:n.316-356T=
NM_000518.5:c.316-356T= MANE Select NP_000509.1:n.316-356T=
Search 100 bp 5'
Search 100 bp 3'