Canonical Allele Identifier: CA388250212
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs587778638

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303955G>A , CM000675.2:g.48303955G>A GRCh38
NC_000013.10:g.48878091G>A , CM000675.1:g.48878091G>A GRCh37
NC_000013.9:g.47776092G>A NCBI36
NG_009009.1:g.5209G>A , LRG_517:g.5209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.43G>A MANE Select ENSP00000267163.4:p.Ala15Thr
ENST00000646097.1:c.43G>A ENSP00000496556.1:p.Ala15Thr
ENST00000650461.1:c.43G>A ENSP00000497193.1:p.Ala15Thr
ENST00000267163.4:c.43G>A ENSP00000267163.4:p.Ala15Thr
ENST00000467505.5:c.43G>A ENSP00000434702.1:p.Ala15Thr
ENST00000525036.1:n.205G>A
NM_000321.2:c.43G>A , LRG_517t1:c.43G>A NP_000312.2:p.Ala15Thr
NM_000321.3:c.43G>A MANE Select NP_000312.2:p.Ala15Thr