Canonical Allele Identifier: CA249842025
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527927
ClinVar RCV Id: RCV000632957 RCV002325216
dbSNP Id: rs899323337
gnomAD v4: 13-48303944-C-G
MyVariant Identifiers: chr13:g.48878080C>G (hg19) chr13:g.48303944C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303944C>G , CM000675.2:g.48303944C>G GRCh38
NC_000013.10:g.48878080C>G , CM000675.1:g.48878080C>G GRCh37
NC_000013.9:g.47776081C>G NCBI36
NG_009009.1:g.5198C>G , LRG_517:g.5198C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.32C>G MANE Select ENSP00000267163.4:p.Ala11Gly
ENST00000646097.1:c.32C>G ENSP00000496556.1:p.Ala11Gly
ENST00000650461.1:c.32C>G ENSP00000497193.1:p.Ala11Gly
ENST00000267163.4:c.32C>G ENSP00000267163.4:p.Ala11Gly
ENST00000467505.5:c.32C>G ENSP00000434702.1:p.Ala11Gly
ENST00000525036.1:n.194C>G
NM_000321.2:c.32C>G , LRG_517t1:c.32C>G NP_000312.2:p.Ala11Gly
NM_000321.3:c.32C>G MANE Select NP_000312.2:p.Ala11Gly
Search 100 bp 5'
Search 100 bp 3'