Canonical Allele Identifier: CA10639628
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312279
ClinVar RCV Id: RCV000393289
dbSNP Id: rs886050266
gnomAD v4: 13-48303760-G-T
MyVariant Identifiers: chr13:g.48877896G>T (hg19) chr13:g.48303760G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303760G>T , CM000675.2:g.48303760G>T GRCh38
NC_000013.10:g.48877896G>T , CM000675.1:g.48877896G>T GRCh37
NC_000013.9:g.47775897G>T NCBI36
NG_009009.1:g.5014G>T , LRG_517:g.5014G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-153G>T MANE Select ENSP00000267163.4:n.-153G>T
ENST00000646097.1:c.-153G>T ENSP00000496556.1:n.-153G>T
ENST00000650461.1:c.-153G>T ENSP00000497193.1:n.-153G>T
ENST00000525036.1:n.10G>T
NM_000321.2:c.-153G>T , LRG_517t1:c.-153G>T NP_000312.2:n.-153G>T
NM_000321.3:c.-153G>T MANE Select NP_000312.2:n.-153G>T
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