Canonical Allele Identifier: CA388250364
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 654914
ClinVar RCV Id: RCV000810985 RCV002336667
dbSNP Id: rs1593412262
gnomAD v4: 13-48304030-G-A
MyVariant Identifiers: chr13:g.48878166G>A (hg19) chr13:g.48304030G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304030G>A , CM000675.2:g.48304030G>A GRCh38
NC_000013.10:g.48878166G>A , CM000675.1:g.48878166G>A GRCh37
NC_000013.9:g.47776167G>A NCBI36
NG_009009.1:g.5284G>A , LRG_517:g.5284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.118G>A MANE Select ENSP00000267163.4:p.Glu40Lys
ENST00000646097.1:c.118G>A ENSP00000496556.1:p.Glu40Lys
ENST00000650461.1:c.118G>A ENSP00000497193.1:p.Glu40Lys
ENST00000267163.4:c.118G>A ENSP00000267163.4:p.Glu40Lys
ENST00000467505.5:c.118G>A ENSP00000434702.1:p.Glu40Lys
ENST00000525036.1:n.280G>A
NM_000321.2:c.118G>A , LRG_517t1:c.118G>A NP_000312.2:p.Glu40Lys
NM_000321.3:c.118G>A MANE Select NP_000312.2:p.Glu40Lys
Search 100 bp 5'
Search 100 bp 3'