Canonical Allele Identifier: CA483711254

Gene: RB1-DT

Linked Data

• gnomAD v4: 13-48303580-A-C
• MyVariant Identifiers: chr13:g.48877716A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303580A>C , CM000675.2:g.48303580A>C	GRCh38
NC_000013.10:g.48877716A>C , CM000675.1:g.48877716A>C	GRCh37
NC_000013.9:g.47775717A>C	NCBI36
NG_009009.1:g.4834A>C , LRG_517:g.4834A>C

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.82T>G
NR_046414.2:n.123T>G