Canonical Allele Identifier: CA1949567745

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226625C= , CM000673.2:g.5226625C=	GRCh38
NC_000011.9:g.5247855C= , CM000673.1:g.5247855C=	GRCh37
NC_000011.8:g.5204431C=	NCBI36
NG_000007.3:g.70991G=
NG_059281.1:g.5447G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.267G=	ENSP00000494175.1:p.Leu89=
ENST00000335295.4:c.267G= MANE Select	ENSP00000333994.3:p.Leu89=
ENST00000380315.2:c.267G=	ENSP00000369671.2:p.Leu89=
ENST00000475226.1:n.199G=
ENST00000485743.1:n.318G=
ENST00000633227.1:c.*83G=	ENSP00000488004.1:n.*83G=
NM_000518.4:c.267G=	NP_000509.1:p.Leu89=
NM_000518.5:c.267G= MANE Select	NP_000509.1:p.Leu89=