Canonical Allele Identifier: CA2622977145
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2964850
ClinVar RCV Id: RCV003828472

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303788A>G , CM000675.2:g.48303788A>G GRCh38
NC_000013.10:g.48877924A>G , CM000675.1:g.48877924A>G GRCh37
NC_000013.9:g.47775925A>G NCBI36
NG_009009.1:g.5042A>G , LRG_517:g.5042A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-125A>G MANE Select ENSP00000267163.4:n.-125A>G
ENST00000646097.1:c.-125A>G ENSP00000496556.1:n.-125A>G
ENST00000650461.1:c.-125A>G ENSP00000497193.1:n.-125A>G
ENST00000267163.4:c.-125A>G ENSP00000267163.4:n.-125A>G
ENST00000467505.5:c.-125A>G ENSP00000434702.1:n.-125A>G
ENST00000525036.1:n.38A>G
NM_000321.2:c.-125A>G , LRG_517t1:c.-125A>G NP_000312.2:n.-125A>G
NM_000321.3:c.-125A>G MANE Select NP_000312.2:n.-125A>G