Canonical Allele Identifier: CA2089949670
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1593411790
gnomAD v4: 13-48303857-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303857G>C , CM000675.2:g.48303857G>C GRCh38
NC_000013.10:g.48877993G>C , CM000675.1:g.48877993G>C GRCh37
NC_000013.9:g.47775994G>C NCBI36
NG_009009.1:g.5111G>C , LRG_517:g.5111G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.-56G>C MANE Select ENSP00000267163.4:n.-56G>C
ENST00000646097.1:c.-56G>C ENSP00000496556.1:n.-56G>C
ENST00000650461.1:c.-56G>C ENSP00000497193.1:n.-56G>C
ENST00000267163.4:c.-56G>C ENSP00000267163.4:n.-56G>C
ENST00000467505.5:c.-56G>C ENSP00000434702.1:n.-56G>C
ENST00000525036.1:n.107G>C
NM_000321.2:c.-56G>C , LRG_517t1:c.-56G>C NP_000312.2:n.-56G>C
NM_000321.3:c.-56G>C MANE Select NP_000312.2:n.-56G>C
Search 100 bp 5'
Search 100 bp 3'