Canonical Allele Identifier: CA483711474

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1276519290
• gnomAD v2: 13-48877775-C-G
• gnomAD v3: 13-48303639-C-G
• gnomAD v4: 13-48303639-C-G
• MyVariant Identifiers: chr13:g.48877775C>G (hg19) ; chr13:g.48303639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303639C>G , CM000675.2:g.48303639C>G	GRCh38
NC_000013.10:g.48877775C>G , CM000675.1:g.48877775C>G	GRCh37
NC_000013.9:g.47775776C>G	NCBI36
NG_009009.1:g.4893C>G , LRG_517:g.4893C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.23G>C
NR_046414.2:n.64G>C