Canonical Allele Identifier: CA2089949563

Gene: RB1

Linked Data

• dbSNP Id: rs1952049328
• gnomAD v4: 13-48303765-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303765G>T , CM000675.2:g.48303765G>T	GRCh38
NC_000013.10:g.48877901G>T , CM000675.1:g.48877901G>T	GRCh37
NC_000013.9:g.47775902G>T	NCBI36
NG_009009.1:g.5019G>T , LRG_517:g.5019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.-148G>T MANE Select	ENSP00000267163.4:n.-148G>T
ENST00000646097.1:c.-148G>T	ENSP00000496556.1:n.-148G>T
ENST00000650461.1:c.-148G>T	ENSP00000497193.1:n.-148G>T
ENST00000525036.1:n.15G>T
NM_000321.2:c.-148G>T , LRG_517t1:c.-148G>T	NP_000312.2:n.-148G>T
NM_000321.3:c.-148G>T MANE Select	NP_000312.2:n.-148G>T