Canonical Allele Identifier: CA2622977401
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1593412433
gnomAD v4: 13-48304121-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304121C>A , CM000675.2:g.48304121C>A GRCh38
NC_000013.10:g.48878257C>A , CM000675.1:g.48878257C>A GRCh37
NC_000013.9:g.47776258C>A NCBI36
NG_009009.1:g.5375C>A , LRG_517:g.5375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+72C>A MANE Select ENSP00000267163.4:n.137+72C>A
ENST00000646097.1:c.137+72C>A ENSP00000496556.1:n.137+72C>A
ENST00000650461.1:c.137+72C>A ENSP00000497193.1:n.137+72C>A
ENST00000267163.4:c.137+72C>A ENSP00000267163.4:n.137+72C>A
ENST00000467505.5:c.137+72C>A ENSP00000434702.1:n.137+72C>A
ENST00000525036.1:n.299+72C>A
NM_000321.2:c.137+72C>A , LRG_517t1:c.137+72C>A NP_000312.2:n.137+72C>A
NM_000321.3:c.137+72C>A MANE Select NP_000312.2:n.137+72C>A
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