Canonical Allele Identifier: CA483710883

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1399512578
• gnomAD v4: 13-48303516-C-A
• MyVariant Identifiers: chr13:g.48877652C>A (hg19) ; chr13:g.48303516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303516C>A , CM000675.2:g.48303516C>A	GRCh38
NC_000013.10:g.48877652C>A , CM000675.1:g.48877652C>A	GRCh37
NC_000013.9:g.47775653C>A	NCBI36
NG_009009.1:g.4770C>A , LRG_517:g.4770C>A

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.146G>T
NR_046414.2:n.187G>T