Canonical Allele Identifier: CA2622977221
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138026611
gnomAD v4: 13-48303850-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303850C>A , CM000675.2:g.48303850C>A GRCh38
NC_000013.10:g.48877986C>A , CM000675.1:g.48877986C>A GRCh37
NC_000013.9:g.47775987C>A NCBI36
NG_009009.1:g.5104C>A , LRG_517:g.5104C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.-63C>A MANE Select ENSP00000267163.4:n.-63C>A
ENST00000646097.1:c.-63C>A ENSP00000496556.1:n.-63C>A
ENST00000650461.1:c.-63C>A ENSP00000497193.1:n.-63C>A
ENST00000267163.4:c.-63C>A ENSP00000267163.4:n.-63C>A
ENST00000467505.5:c.-63C>A ENSP00000434702.1:n.-63C>A
ENST00000525036.1:n.100C>A
NM_000321.2:c.-63C>A , LRG_517t1:c.-63C>A NP_000312.2:n.-63C>A
NM_000321.3:c.-63C>A MANE Select NP_000312.2:n.-63C>A
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