Canonical Allele Identifier: CA388160071

Gene: RB1

Linked Data

• dbSNP Id: rs200844292
• gnomAD v4: 13-48364961-G-T
• MyVariant Identifiers: chr13:g.48939097G>T (hg19) ; chr13:g.48364961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364961G>T , CM000675.2:g.48364961G>T	GRCh38
NC_000013.10:g.48939097G>T , CM000675.1:g.48939097G>T	GRCh37
NC_000013.9:g.47837098G>T	NCBI36
NG_009009.1:g.66215G>T , LRG_517:g.66215G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.929G>T MANE Select	ENSP00000267163.4:p.Gly310Val
ENST00000650461.1:c.929G>T	ENSP00000497193.1:p.Gly310Val
ENST00000267163.4:c.929G>T	ENSP00000267163.4:p.Gly310Val
NM_000321.2:c.929G>T , LRG_517t1:c.929G>T	NP_000312.2:p.Gly310Val
XM_011535171.1:c.668G>T	XP_011533473.1:p.Gly223Val
XM_011535171.2:c.668G>T	XP_011533473.1:p.Gly223Val
XR_002957522.1:n.137C>A
NM_000321.3:c.929G>T MANE Select	NP_000312.2:p.Gly310Val