Canonical Allele Identifier: CA2622977492

Gene: RB1

Linked Data

• gnomAD v4: 13-48304170-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304170A>C , CM000675.2:g.48304170A>C	GRCh38
NC_000013.10:g.48878306A>C , CM000675.1:g.48878306A>C	GRCh37
NC_000013.9:g.47776307A>C	NCBI36
NG_009009.1:g.5424A>C , LRG_517:g.5424A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+121A>C MANE Select	ENSP00000267163.4:n.137+121A>C
ENST00000646097.1:c.137+121A>C	ENSP00000496556.1:n.137+121A>C
ENST00000650461.1:c.137+121A>C	ENSP00000497193.1:n.137+121A>C
ENST00000267163.4:c.137+121A>C	ENSP00000267163.4:n.137+121A>C
ENST00000467505.5:c.137+121A>C	ENSP00000434702.1:n.137+121A>C
ENST00000525036.1:n.299+121A>C
NM_000321.2:c.137+121A>C , LRG_517t1:c.137+121A>C	NP_000312.2:n.137+121A>C
NM_000321.3:c.137+121A>C MANE Select	NP_000312.2:n.137+121A>C