Canonical Allele Identifier: CA388250328
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138027803

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304013A>G , CM000675.2:g.48304013A>G GRCh38
NC_000013.10:g.48878149A>G , CM000675.1:g.48878149A>G GRCh37
NC_000013.9:g.47776150A>G NCBI36
NG_009009.1:g.5267A>G , LRG_517:g.5267A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.101A>G MANE Select ENSP00000267163.4:p.Glu34Gly
ENST00000646097.1:c.101A>G ENSP00000496556.1:p.Glu34Gly
ENST00000650461.1:c.101A>G ENSP00000497193.1:p.Glu34Gly
ENST00000267163.4:c.101A>G ENSP00000267163.4:p.Glu34Gly
ENST00000467505.5:c.101A>G ENSP00000434702.1:p.Glu34Gly
ENST00000525036.1:n.263A>G
NM_000321.2:c.101A>G , LRG_517t1:c.101A>G NP_000312.2:p.Glu34Gly
NM_000321.3:c.101A>G MANE Select NP_000312.2:p.Glu34Gly