Canonical Allele Identifier: CA249842003
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2915146
ClinVar RCV Id: RCV003627494
dbSNP Id: rs960064111
gnomAD v4: 13-48303755-G-A
MyVariant Identifiers: chr13:g.48877891G>A (hg19) chr13:g.48303755G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303755G>A , CM000675.2:g.48303755G>A GRCh38
NC_000013.10:g.48877891G>A , CM000675.1:g.48877891G>A GRCh37
NC_000013.9:g.47775892G>A NCBI36
NG_009009.1:g.5009G>A , LRG_517:g.5009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-158G>A MANE Select ENSP00000267163.4:n.-158G>A
ENST00000646097.1:c.-158G>A ENSP00000496556.1:n.-158G>A
ENST00000650461.1:c.-158G>A ENSP00000497193.1:n.-158G>A
ENST00000525036.1:n.5G>A
NM_000321.2:c.-158G>A , LRG_517t1:c.-158G>A NP_000312.2:n.-158G>A
NM_000321.3:c.-158G>A MANE Select NP_000312.2:n.-158G>A
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