Canonical Allele Identifier: CA2090008124

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459785C= , CM000675.2:g.48459785C=	GRCh38
NC_000013.10:g.49033921C= , CM000675.1:g.49033921C=	GRCh37
NC_000013.9:g.47931922C=	NCBI36
NG_009009.1:g.161039C= , LRG_517:g.161039C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2058C= MANE Select	ENSP00000267163.4:p.His686=
ENST00000643064.1:c.194+78342C=
ENST00000650461.1:c.2058C=	ENSP00000497193.1:p.His686=
ENST00000267163.4:c.2058C=	ENSP00000267163.4:p.His686=
NM_000321.2:c.2058C= , LRG_517t1:c.2058C=	NP_000312.2:p.His686=
XM_011535171.1:c.1797C=	XP_011533473.1:p.His599=
XM_011535171.2:c.1797C=	XP_011533473.1:p.His599=
NM_000321.3:c.2058C= MANE Select	NP_000312.2:p.His686=