Canonical Allele Identifier: CA483711194

Gene: RB1-DT

Linked Data

• gnomAD v4: 13-48303573-T-C
• MyVariant Identifiers: chr13:g.48877709T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303573T>C , CM000675.2:g.48303573T>C	GRCh38
NC_000013.10:g.48877709T>C , CM000675.1:g.48877709T>C	GRCh37
NC_000013.9:g.47775710T>C	NCBI36
NG_009009.1:g.4827T>C , LRG_517:g.4827T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.89A>G
NR_046414.2:n.130A>G