Canonical Allele Identifier: CA1949568608

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226700A= , CM000673.2:g.5226700A=	GRCh38
NC_000011.9:g.5247930A= , CM000673.1:g.5247930A=	GRCh37
NC_000011.8:g.5204506A=	NCBI36
NG_000007.3:g.70916T=
NG_059281.1:g.5372T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.192T=	ENSP00000494175.1:p.His64=
ENST00000335295.4:c.192T= MANE Select	ENSP00000333994.3:p.His64=
ENST00000380315.2:c.192T=	ENSP00000369671.2:p.His64=
ENST00000475226.1:n.124T=
ENST00000485743.1:n.243T=
ENST00000633227.1:c.*8T=	ENSP00000488004.1:n.*8T=
NM_000518.4:c.192T=	NP_000509.1:p.His64=
NM_000518.5:c.192T= MANE Select	NP_000509.1:p.His64=