Canonical Allele Identifier: CA955794742
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952049807
gnomAD v3: 13-48303814-C-T
gnomAD v4: 13-48303814-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303814C>T , CM000675.2:g.48303814C>T GRCh38
NC_000013.10:g.48877950C>T , CM000675.1:g.48877950C>T GRCh37
NC_000013.9:g.47775951C>T NCBI36
NG_009009.1:g.5068C>T , LRG_517:g.5068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-99C>T MANE Select ENSP00000267163.4:n.-99C>T
ENST00000646097.1:c.-99C>T ENSP00000496556.1:n.-99C>T
ENST00000650461.1:c.-99C>T ENSP00000497193.1:n.-99C>T
ENST00000267163.4:c.-99C>T ENSP00000267163.4:n.-99C>T
ENST00000467505.5:c.-99C>T ENSP00000434702.1:n.-99C>T
ENST00000525036.1:n.64C>T
NM_000321.2:c.-99C>T , LRG_517t1:c.-99C>T NP_000312.2:n.-99C>T
NM_000321.3:c.-99C>T MANE Select NP_000312.2:n.-99C>T
Search 100 bp 5'
Search 100 bp 3'