Canonical Allele Identifier: CA2622986106

Gene: RB1

Linked Data

• gnomAD v4: 13-48476588-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476588T>C , CM000675.2:g.48476588T>C	GRCh38
NC_000013.10:g.49050724T>C , CM000675.1:g.49050724T>C	GRCh37
NC_000013.9:g.47948725T>C	NCBI36
NG_009009.1:g.177842T>C , LRG_517:g.177842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2521-113T>C MANE Select	ENSP00000267163.4:n.2521-113T>C
ENST00000643064.1:c.194+95145T>C
ENST00000650461.1:c.2521-113T>C	ENSP00000497193.1:n.2521-113T>C
ENST00000267163.4:c.2521-113T>C	ENSP00000267163.4:n.2521-113T>C
ENST00000484879.1:n.142T>C
ENST00000531171.5:n.123+66T>C
NM_000321.2:c.2521-113T>C , LRG_517t1:c.2521-113T>C	NP_000312.2:n.2521-113T>C
XM_011535171.1:c.2260-113T>C	XP_011533473.1:n.2260-113T>C
XM_011535171.2:c.2260-113T>C	XP_011533473.1:n.2260-113T>C
NM_000321.3:c.2521-113T>C MANE Select	NP_000312.2:n.2521-113T>C