Canonical Allele Identifier: CA2622977414
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138028548
gnomAD v4: 13-48304131-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304131G>A , CM000675.2:g.48304131G>A GRCh38
NC_000013.10:g.48878267G>A , CM000675.1:g.48878267G>A GRCh37
NC_000013.9:g.47776268G>A NCBI36
NG_009009.1:g.5385G>A , LRG_517:g.5385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+82G>A MANE Select ENSP00000267163.4:n.137+82G>A
ENST00000646097.1:c.137+82G>A ENSP00000496556.1:n.137+82G>A
ENST00000650461.1:c.137+82G>A ENSP00000497193.1:n.137+82G>A
ENST00000267163.4:c.137+82G>A ENSP00000267163.4:n.137+82G>A
ENST00000467505.5:c.137+82G>A ENSP00000434702.1:n.137+82G>A
ENST00000525036.1:n.299+82G>A
NM_000321.2:c.137+82G>A , LRG_517t1:c.137+82G>A NP_000312.2:n.137+82G>A
NM_000321.3:c.137+82G>A MANE Select NP_000312.2:n.137+82G>A
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