Canonical Allele Identifier: CA2089949589
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952049584
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Genomic Alleles

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

Transcript Alleles

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