Canonical Allele Identifier: CA2622977383
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138028420
gnomAD v4: 13-48304106-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304106G>T , CM000675.2:g.48304106G>T GRCh38
NC_000013.10:g.48878242G>T , CM000675.1:g.48878242G>T GRCh37
NC_000013.9:g.47776243G>T NCBI36
NG_009009.1:g.5360G>T , LRG_517:g.5360G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+57G>T MANE Select ENSP00000267163.4:n.137+57G>T
ENST00000646097.1:c.137+57G>T ENSP00000496556.1:n.137+57G>T
ENST00000650461.1:c.137+57G>T ENSP00000497193.1:n.137+57G>T
ENST00000267163.4:c.137+57G>T ENSP00000267163.4:n.137+57G>T
ENST00000467505.5:c.137+57G>T ENSP00000434702.1:n.137+57G>T
ENST00000525036.1:n.299+57G>T
NM_000321.2:c.137+57G>T , LRG_517t1:c.137+57G>T NP_000312.2:n.137+57G>T
NM_000321.3:c.137+57G>T MANE Select NP_000312.2:n.137+57G>T
Search 100 bp 5'
Search 100 bp 3'