Canonical Allele Identifier: CA1949564263

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225616C= , CM000673.2:g.5225616C=	GRCh38
NC_000011.9:g.5246846C= , CM000673.1:g.5246846C=	GRCh37
NC_000011.8:g.5203422C=	NCBI36
NG_000007.3:g.72000G=
NG_059281.1:g.6456G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.426G=	ENSP00000494175.1:p.Leu142=
ENST00000335295.4:c.426G= MANE Select	ENSP00000333994.3:p.Leu142=
ENST00000633227.1:c.*242G=	ENSP00000488004.1:n.*242G=
NM_000518.4:c.426G=	NP_000509.1:p.Leu142=
NM_000518.5:c.426G= MANE Select	NP_000509.1:p.Leu142=