Canonical Allele Identifier: CA388250236
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138027431

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303968A>C , CM000675.2:g.48303968A>C GRCh38
NC_000013.10:g.48878104A>C , CM000675.1:g.48878104A>C GRCh37
NC_000013.9:g.47776105A>C NCBI36
NG_009009.1:g.5222A>C , LRG_517:g.5222A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.56A>C MANE Select ENSP00000267163.4:p.Glu19Ala
ENST00000646097.1:c.56A>C ENSP00000496556.1:p.Glu19Ala
ENST00000650461.1:c.56A>C ENSP00000497193.1:p.Glu19Ala
ENST00000267163.4:c.56A>C ENSP00000267163.4:p.Glu19Ala
ENST00000467505.5:c.56A>C ENSP00000434702.1:p.Glu19Ala
ENST00000525036.1:n.218A>C
NM_000321.2:c.56A>C , LRG_517t1:c.56A>C NP_000312.2:p.Glu19Ala
NM_000321.3:c.56A>C MANE Select NP_000312.2:p.Glu19Ala