Canonical Allele Identifier: CA698667785

Gene: RB1

Linked Data

• dbSNP Id: rs1169074438
• gnomAD v3: 13-48365072-T-A
• gnomAD v4: 13-48365072-T-A
• MyVariant Identifiers: chr13:g.48939208T>A (hg19) ; chr13:g.48365072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48365072T>A , CM000675.2:g.48365072T>A	GRCh38
NC_000013.10:g.48939208T>A , CM000675.1:g.48939208T>A	GRCh37
NC_000013.9:g.47837209T>A	NCBI36
NG_009009.1:g.66326T>A , LRG_517:g.66326T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.939+101T>A MANE Select	ENSP00000267163.4:n.939+101T>A
ENST00000650461.1:c.939+101T>A	ENSP00000497193.1:n.939+101T>A
ENST00000267163.4:c.939+101T>A	ENSP00000267163.4:n.939+101T>A
NM_000321.2:c.939+101T>A , LRG_517t1:c.939+101T>A	NP_000312.2:n.939+101T>A
XM_011535171.1:c.678+101T>A	XP_011533473.1:n.678+101T>A
XM_011535171.2:c.678+101T>A	XP_011533473.1:n.678+101T>A
XR_002957522.1:n.122-96A>T
NM_000321.3:c.939+101T>A MANE Select	NP_000312.2:n.939+101T>A