Canonical Allele Identifier: CA483711325

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1216540695
• gnomAD v4: 13-48303598-C-T
• MyVariant Identifiers: chr13:g.48877734C>T (hg19) ; chr13:g.48303598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303598C>T , CM000675.2:g.48303598C>T	GRCh38
NC_000013.10:g.48877734C>T , CM000675.1:g.48877734C>T	GRCh37
NC_000013.9:g.47775735C>T	NCBI36
NG_009009.1:g.4852C>T , LRG_517:g.4852C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.64G>A
NR_046414.2:n.105G>A