Canonical Allele Identifier: CA698667550

Gene: RB1

Linked Data

• dbSNP Id: rs1231786696
• gnomAD v3: 13-48364871-T-G
• gnomAD v4: 13-48364871-T-G
• MyVariant Identifiers: chr13:g.48939007T>G (hg19) ; chr13:g.48364871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364871T>G , CM000675.2:g.48364871T>G	GRCh38
NC_000013.10:g.48939007T>G , CM000675.1:g.48939007T>G	GRCh37
NC_000013.9:g.47837008T>G	NCBI36
NG_009009.1:g.66125T>G , LRG_517:g.66125T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.862-23T>G MANE Select	ENSP00000267163.4:n.862-23T>G
ENST00000650461.1:c.862-23T>G	ENSP00000497193.1:n.862-23T>G
ENST00000267163.4:c.862-23T>G	ENSP00000267163.4:n.862-23T>G
NM_000321.2:c.862-23T>G , LRG_517t1:c.862-23T>G	NP_000312.2:n.862-23T>G
XM_011535171.1:c.601-23T>G	XP_011533473.1:n.601-23T>G
XM_011535171.2:c.601-23T>G	XP_011533473.1:n.601-23T>G
NM_000321.3:c.862-23T>G MANE Select	NP_000312.2:n.862-23T>G