Canonical Allele Identifier: CA2622977240
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1258364025
gnomAD v4: 13-48303861-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303861T>C , CM000675.2:g.48303861T>C GRCh38
NC_000013.10:g.48877997T>C , CM000675.1:g.48877997T>C GRCh37
NC_000013.9:g.47775998T>C NCBI36
NG_009009.1:g.5115T>C , LRG_517:g.5115T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.-52T>C MANE Select ENSP00000267163.4:n.-52T>C
ENST00000646097.1:c.-52T>C ENSP00000496556.1:n.-52T>C
ENST00000650461.1:c.-52T>C ENSP00000497193.1:n.-52T>C
ENST00000267163.4:c.-52T>C ENSP00000267163.4:n.-52T>C
ENST00000467505.5:c.-52T>C ENSP00000434702.1:n.-52T>C
ENST00000525036.1:n.111T>C
NM_000321.2:c.-52T>C , LRG_517t1:c.-52T>C NP_000312.2:n.-52T>C
NM_000321.3:c.-52T>C MANE Select NP_000312.2:n.-52T>C
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