Canonical Allele Identifier: CA388250233

Gene: RB1

Linked Data

• dbSNP Id: rs2138027419
• gnomAD v4: 13-48303967-G-A
• MyVariant Identifiers: chr13:g.48878103G>A (hg19) ; chr13:g.48303967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303967G>A , CM000675.2:g.48303967G>A	GRCh38
NC_000013.10:g.48878103G>A , CM000675.1:g.48878103G>A	GRCh37
NC_000013.9:g.47776104G>A	NCBI36
NG_009009.1:g.5221G>A , LRG_517:g.5221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.55G>A MANE Select	ENSP00000267163.4:p.Glu19Lys
ENST00000646097.1:c.55G>A	ENSP00000496556.1:p.Glu19Lys
ENST00000650461.1:c.55G>A	ENSP00000497193.1:p.Glu19Lys
ENST00000267163.4:c.55G>A	ENSP00000267163.4:p.Glu19Lys
ENST00000467505.5:c.55G>A	ENSP00000434702.1:p.Glu19Lys
ENST00000525036.1:n.217G>A
NM_000321.2:c.55G>A , LRG_517t1:c.55G>A	NP_000312.2:p.Glu19Lys
NM_000321.3:c.55G>A MANE Select	NP_000312.2:p.Glu19Lys