Canonical Allele Identifier: CA388250243
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303971C>A , CM000675.2:g.48303971C>A GRCh38
NC_000013.10:g.48878107C>A , CM000675.1:g.48878107C>A GRCh37
NC_000013.9:g.47776108C>A NCBI36
NG_009009.1:g.5225C>A , LRG_517:g.5225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.59C>A MANE Select ENSP00000267163.4:p.Pro20His
ENST00000646097.1:c.59C>A ENSP00000496556.1:p.Pro20His
ENST00000650461.1:c.59C>A ENSP00000497193.1:p.Pro20His
ENST00000267163.4:c.59C>A ENSP00000267163.4:p.Pro20His
ENST00000467505.5:c.59C>A ENSP00000434702.1:p.Pro20His
ENST00000525036.1:n.221C>A
NM_000321.2:c.59C>A , LRG_517t1:c.59C>A NP_000312.2:p.Pro20His
NM_000321.3:c.59C>A MANE Select NP_000312.2:p.Pro20His