Canonical Allele Identifier: CA388250251

Gene: RB1

Linked Data

• dbSNP Id: rs2138027513
• gnomAD v4: 13-48303976-G-A
• MyVariant Identifiers: chr13:g.48878112G>A (hg19) ; chr13:g.48303976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303976G>A , CM000675.2:g.48303976G>A	GRCh38
NC_000013.10:g.48878112G>A , CM000675.1:g.48878112G>A	GRCh37
NC_000013.9:g.47776113G>A	NCBI36
NG_009009.1:g.5230G>A , LRG_517:g.5230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.64G>A MANE Select	ENSP00000267163.4:p.Ala22Thr
ENST00000646097.1:c.64G>A	ENSP00000496556.1:p.Ala22Thr
ENST00000650461.1:c.64G>A	ENSP00000497193.1:p.Ala22Thr
ENST00000267163.4:c.64G>A	ENSP00000267163.4:p.Ala22Thr
ENST00000467505.5:c.64G>A	ENSP00000434702.1:p.Ala22Thr
ENST00000525036.1:n.226G>A
NM_000321.2:c.64G>A , LRG_517t1:c.64G>A	NP_000312.2:p.Ala22Thr
NM_000321.3:c.64G>A MANE Select	NP_000312.2:p.Ala22Thr