Canonical Allele Identifier: CA249842013
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994302
ClinVar RCV Id: RCV003855941
dbSNP Id: rs925207403
gnomAD v2: 13-48877951-G-A
gnomAD v3: 13-48303815-G-A
gnomAD v4: 13-48303815-G-A
MyVariant Identifiers: chr13:g.48877951G>A (hg19) chr13:g.48303815G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303815G>A , CM000675.2:g.48303815G>A GRCh38
NC_000013.10:g.48877951G>A , CM000675.1:g.48877951G>A GRCh37
NC_000013.9:g.47775952G>A NCBI36
NG_009009.1:g.5069G>A , LRG_517:g.5069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-98G>A MANE Select ENSP00000267163.4:n.-98G>A
ENST00000646097.1:c.-98G>A ENSP00000496556.1:n.-98G>A
ENST00000650461.1:c.-98G>A ENSP00000497193.1:n.-98G>A
ENST00000267163.4:c.-98G>A ENSP00000267163.4:n.-98G>A
ENST00000467505.5:c.-98G>A ENSP00000434702.1:n.-98G>A
ENST00000525036.1:n.65G>A
NM_000321.2:c.-98G>A , LRG_517t1:c.-98G>A NP_000312.2:n.-98G>A
NM_000321.3:c.-98G>A MANE Select NP_000312.2:n.-98G>A
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