Canonical Allele Identifier: CA1949570284

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226935C= , CM000673.2:g.5226935C=	GRCh38
NC_000011.9:g.5248165C= , CM000673.1:g.5248165C=	GRCh37
NC_000011.8:g.5204741C=	NCBI36
NG_000007.3:g.70681G=
NG_059281.1:g.5137G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.87G=	ENSP00000494175.1:p.Leu29=
ENST00000335295.4:c.87G= MANE Select	ENSP00000333994.3:p.Leu29=
ENST00000380315.2:c.87G=	ENSP00000369671.2:p.Leu29=
ENST00000485743.1:n.138G=
ENST00000633227.1:c.76+11G=	ENSP00000488004.1:n.76+11G=
NM_000518.4:c.87G=	NP_000509.1:p.Leu29=
NM_000518.5:c.87G= MANE Select	NP_000509.1:p.Leu29=