Canonical Allele Identifier: CA698656426

Gene: RB1

Linked Data

• dbSNP Id: rs1258364025
• gnomAD v3: 13-48303861-T-A
• gnomAD v4: 13-48303861-T-A
• MyVariant Identifiers: chr13:g.48877997T>A (hg19) ; chr13:g.48303861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303861T>A , CM000675.2:g.48303861T>A	GRCh38
NC_000013.10:g.48877997T>A , CM000675.1:g.48877997T>A	GRCh37
NC_000013.9:g.47775998T>A	NCBI36
NG_009009.1:g.5115T>A , LRG_517:g.5115T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.-52T>A MANE Select	ENSP00000267163.4:n.-52T>A
ENST00000646097.1:c.-52T>A	ENSP00000496556.1:n.-52T>A
ENST00000650461.1:c.-52T>A	ENSP00000497193.1:n.-52T>A
ENST00000267163.4:c.-52T>A	ENSP00000267163.4:n.-52T>A
ENST00000467505.5:c.-52T>A	ENSP00000434702.1:n.-52T>A
ENST00000525036.1:n.111T>A
NM_000321.2:c.-52T>A , LRG_517t1:c.-52T>A	NP_000312.2:n.-52T>A
NM_000321.3:c.-52T>A MANE Select	NP_000312.2:n.-52T>A