Canonical Allele Identifier: CA2622977156
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48303796-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303796T>G , CM000675.2:g.48303796T>G GRCh38
NC_000013.10:g.48877932T>G , CM000675.1:g.48877932T>G GRCh37
NC_000013.9:g.47775933T>G NCBI36
NG_009009.1:g.5050T>G , LRG_517:g.5050T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-117T>G MANE Select ENSP00000267163.4:n.-117T>G
ENST00000646097.1:c.-117T>G ENSP00000496556.1:n.-117T>G
ENST00000650461.1:c.-117T>G ENSP00000497193.1:n.-117T>G
ENST00000267163.4:c.-117T>G ENSP00000267163.4:n.-117T>G
ENST00000467505.5:c.-117T>G ENSP00000434702.1:n.-117T>G
ENST00000525036.1:n.46T>G
NM_000321.2:c.-117T>G , LRG_517t1:c.-117T>G NP_000312.2:n.-117T>G
NM_000321.3:c.-117T>G MANE Select NP_000312.2:n.-117T>G
Search 100 bp 5'
Search 100 bp 3'