Canonical Allele Identifier: CA1949565878
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225909G= , CM000673.2:g.5225909G= GRCh38
NC_000011.9:g.5247139G= , CM000673.1:g.5247139G= GRCh37
NC_000011.8:g.5203715G= NCBI36
NG_000007.3:g.71707C=
NG_059281.1:g.6163C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-183C= ENSP00000494175.1:n.316-183C=
ENST00000335295.4:c.316-183C= MANE Select ENSP00000333994.3:n.316-183C=
ENST00000475226.1:n.248-183C=
ENST00000633227.1:c.*132-183C= ENSP00000488004.1:n.*132-183C=
NM_000518.4:c.316-183C= NP_000509.1:n.316-183C=
NM_000518.5:c.316-183C= MANE Select NP_000509.1:n.316-183C=