Canonical Allele Identifier: CA483711636
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48304002-G-A
MyVariant Identifiers: chr13:g.48878138G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304002G>A , CM000675.2:g.48304002G>A GRCh38
NC_000013.10:g.48878138G>A , CM000675.1:g.48878138G>A GRCh37
NC_000013.9:g.47776139G>A NCBI36
NG_009009.1:g.5256G>A , LRG_517:g.5256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.90G>A MANE Select ENSP00000267163.4:p.Glu30=
ENST00000646097.1:c.90G>A ENSP00000496556.1:p.Glu30=
ENST00000650461.1:c.90G>A ENSP00000497193.1:p.Glu30=
ENST00000267163.4:c.90G>A ENSP00000267163.4:p.Glu30=
ENST00000467505.5:c.90G>A ENSP00000434702.1:p.Glu30=
ENST00000525036.1:n.252G>A
NM_000321.2:c.90G>A , LRG_517t1:c.90G>A NP_000312.2:p.Glu30=
NM_000321.3:c.90G>A MANE Select NP_000312.2:p.Glu30=
Search 100 bp 5'
Search 100 bp 3'