Canonical Allele Identifier: CA1949565470
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225747G= , CM000673.2:g.5225747G= GRCh38
NC_000011.9:g.5246977G= , CM000673.1:g.5246977G= GRCh37
NC_000011.8:g.5203553G= NCBI36
NG_000007.3:g.71869C=
NG_059281.1:g.6325C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-21C= ENSP00000494175.1:n.316-21C=
ENST00000335295.4:c.316-21C= MANE Select ENSP00000333994.3:n.316-21C=
ENST00000475226.1:n.248-21C=
ENST00000633227.1:c.*132-21C= ENSP00000488004.1:n.*132-21C=
NM_000518.4:c.316-21C= NP_000509.1:n.316-21C=
NM_000518.5:c.316-21C= MANE Select NP_000509.1:n.316-21C=