Canonical Allele Identifier: CA1949569493

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226776G= , CM000673.2:g.5226776G=	GRCh38
NC_000011.9:g.5248006G= , CM000673.1:g.5248006G=	GRCh37
NC_000011.8:g.5204582G=	NCBI36
NG_000007.3:g.70840C=
NG_059281.1:g.5296C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.116C=	ENSP00000494175.1:p.Thr39=
ENST00000335295.4:c.116C= MANE Select	ENSP00000333994.3:p.Thr39=
ENST00000380315.2:c.116C=	ENSP00000369671.2:p.Thr39=
ENST00000475226.1:n.48C=
ENST00000485743.1:n.167C=
ENST00000633227.1:c.100C=	ENSP00000488004.1:p.Pro34=
NM_000518.4:c.116C=	NP_000509.1:p.Thr39=
NM_000518.5:c.116C= MANE Select	NP_000509.1:p.Thr39=