Canonical Allele Identifier: CA1949568668
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226705C= , CM000673.2:g.5226705C= GRCh38
NC_000011.9:g.5247935C= , CM000673.1:g.5247935C= GRCh37
NC_000011.8:g.5204511C= NCBI36
NG_000007.3:g.70911G=
NG_059281.1:g.5367G=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.187G= ENSP00000494175.1:p.Ala63=
ENST00000335295.4:c.187G= MANE Select ENSP00000333994.3:p.Ala63=
ENST00000380315.2:c.187G= ENSP00000369671.2:p.Ala63=
ENST00000475226.1:n.119G=
ENST00000485743.1:n.238G=
ENST00000633227.1:c.*3G= ENSP00000488004.1:n.*3G=
NM_000518.4:c.187G= NP_000509.1:p.Ala63=
NM_000518.5:c.187G= MANE Select NP_000509.1:p.Ala63=