Canonical Allele Identifier: CA483710961

Gene: RB1-DT

Linked Data

• gnomAD v4: 13-48303531-G-T
• MyVariant Identifiers: chr13:g.48877667G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303531G>T , CM000675.2:g.48303531G>T	GRCh38
NC_000013.10:g.48877667G>T , CM000675.1:g.48877667G>T	GRCh37
NC_000013.9:g.47775668G>T	NCBI36
NG_009009.1:g.4785G>T , LRG_517:g.4785G>T

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.131C>A
NR_046414.2:n.172C>A