Canonical Allele Identifier: CA1949567350

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226582A= , CM000673.2:g.5226582A=	GRCh38
NC_000011.9:g.5247812A= , CM000673.1:g.5247812A=	GRCh37
NC_000011.8:g.5204388A=	NCBI36
NG_000007.3:g.71034T=
NG_059281.1:g.5490T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.310T=	ENSP00000494175.1:p.Phe104=
ENST00000335295.4:c.310T= MANE Select	ENSP00000333994.3:p.Phe104=
ENST00000475226.1:n.242T=
ENST00000485743.1:n.361T=
ENST00000633227.1:c.*126T=	ENSP00000488004.1:n.*126T=
NM_000518.4:c.310T=	NP_000509.1:p.Phe104=
NM_000518.5:c.310T= MANE Select	NP_000509.1:p.Phe104=