Canonical Allele Identifier: CA249842033
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527919
dbSNP Id: rs896487590

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304021A>G , CM000675.2:g.48304021A>G GRCh38
NC_000013.10:g.48878157A>G , CM000675.1:g.48878157A>G GRCh37
NC_000013.9:g.47776158A>G NCBI36
NG_009009.1:g.5275A>G , LRG_517:g.5275A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.109A>G MANE Select ENSP00000267163.4:p.Ser37Gly
ENST00000646097.1:c.109A>G ENSP00000496556.1:p.Ser37Gly
ENST00000650461.1:c.109A>G ENSP00000497193.1:p.Ser37Gly
ENST00000267163.4:c.109A>G ENSP00000267163.4:p.Ser37Gly
ENST00000467505.5:c.109A>G ENSP00000434702.1:p.Ser37Gly
ENST00000525036.1:n.271A>G
NM_000321.2:c.109A>G , LRG_517t1:c.109A>G NP_000312.2:p.Ser37Gly
NM_000321.3:c.109A>G MANE Select NP_000312.2:p.Ser37Gly