Canonical Allele Identifier: CA2622977239

Gene: RB1

Linked Data

• gnomAD v4: 13-48303860-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303860G>T , CM000675.2:g.48303860G>T	GRCh38
NC_000013.10:g.48877996G>T , CM000675.1:g.48877996G>T	GRCh37
NC_000013.9:g.47775997G>T	NCBI36
NG_009009.1:g.5114G>T , LRG_517:g.5114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.-53G>T MANE Select	ENSP00000267163.4:n.-53G>T
ENST00000646097.1:c.-53G>T	ENSP00000496556.1:n.-53G>T
ENST00000650461.1:c.-53G>T	ENSP00000497193.1:n.-53G>T
ENST00000267163.4:c.-53G>T	ENSP00000267163.4:n.-53G>T
ENST00000467505.5:c.-53G>T	ENSP00000434702.1:n.-53G>T
ENST00000525036.1:n.110G>T
NM_000321.2:c.-53G>T , LRG_517t1:c.-53G>T	NP_000312.2:n.-53G>T
NM_000321.3:c.-53G>T MANE Select	NP_000312.2:n.-53G>T