Canonical Allele Identifier: CA1949571074
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227003C= , CM000673.2:g.5227003C= GRCh38
NC_000011.9:g.5248233C= , CM000673.1:g.5248233C= GRCh37
NC_000011.8:g.5204809C= NCBI36
NG_000007.3:g.70613G=
NG_059281.1:g.5069G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.19G= ENSP00000494175.1:p.Glu7=
ENST00000335295.4:c.19G= MANE Select ENSP00000333994.3:p.Glu7=
ENST00000380315.2:c.19G= ENSP00000369671.2:p.Glu7=
ENST00000485743.1:n.70G=
ENST00000633227.1:c.19G= ENSP00000488004.1:p.Glu7=
NM_000518.4:c.19G= NP_000509.1:p.Glu7=
NM_000518.5:c.19G= MANE Select NP_000509.1:p.Glu7=