Canonical Allele Identifier: CA483710930

Gene: RB1-DT

Linked Data

• gnomAD v4: 13-48303524-T-C
• MyVariant Identifiers: chr13:g.48877660T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303524T>C , CM000675.2:g.48303524T>C	GRCh38
NC_000013.10:g.48877660T>C , CM000675.1:g.48877660T>C	GRCh37
NC_000013.9:g.47775661T>C	NCBI36
NG_009009.1:g.4778T>C , LRG_517:g.4778T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.138A>G
NR_046414.2:n.179A>G