Canonical Allele Identifier: CA1949569755

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226804G= , CM000673.2:g.5226804G=	GRCh38
NC_000011.9:g.5248034G= , CM000673.1:g.5248034G=	GRCh37
NC_000011.8:g.5204610G=	NCBI36
NG_000007.3:g.70812C=
NG_059281.1:g.5268C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-5C=	ENSP00000494175.1:n.93-5C=
ENST00000335295.4:c.93-5C= MANE Select	ENSP00000333994.3:n.93-5C=
ENST00000380315.2:c.93-5C=	ENSP00000369671.2:n.93-5C=
ENST00000475226.1:n.20C=
ENST00000485743.1:n.144-5C=
ENST00000633227.1:c.77-5C=	ENSP00000488004.1:n.77-5C=
NM_000518.4:c.93-5C=	NP_000509.1:n.93-5C=
NM_000518.5:c.93-5C= MANE Select	NP_000509.1:n.93-5C=