Canonical Allele Identifier: CA249841980

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1039074185
• gnomAD v2: 13-48877791-G-A
• gnomAD v3: 13-48303655-G-A
• gnomAD v4: 13-48303655-G-A
• MyVariant Identifiers: chr13:g.48877791G>A (hg19) ; chr13:g.48303655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303655G>A , CM000675.2:g.48303655G>A	GRCh38
NC_000013.10:g.48877791G>A , CM000675.1:g.48877791G>A	GRCh37
NC_000013.9:g.47775792G>A	NCBI36
NG_009009.1:g.4909G>A , LRG_517:g.4909G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.7C>T
NR_046414.2:n.48C>T