Canonical Allele Identifier: CA1949565814
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225873T= , CM000673.2:g.5225873T= GRCh38
NC_000011.9:g.5247103T= , CM000673.1:g.5247103T= GRCh37
NC_000011.8:g.5203679T= NCBI36
NG_000007.3:g.71743A=
NG_059281.1:g.6199A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-147A= ENSP00000494175.1:n.316-147A=
ENST00000335295.4:c.316-147A= MANE Select ENSP00000333994.3:n.316-147A=
ENST00000475226.1:n.248-147A=
ENST00000633227.1:c.*132-147A= ENSP00000488004.1:n.*132-147A=
NM_000518.4:c.316-147A= NP_000509.1:n.316-147A=
NM_000518.5:c.316-147A= MANE Select NP_000509.1:n.316-147A=