Canonical Allele Identifier: CA2517012357
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303789G>A , CM000675.2:g.48303789G>A GRCh38
NC_000013.10:g.48877925G>A , CM000675.1:g.48877925G>A GRCh37
NC_000013.9:g.47775926G>A NCBI36
NG_009009.1:g.5043G>A , LRG_517:g.5043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-124G>A MANE Select ENSP00000267163.4:n.-124G>A
ENST00000646097.1:c.-124G>A ENSP00000496556.1:n.-124G>A
ENST00000650461.1:c.-124G>A ENSP00000497193.1:n.-124G>A
ENST00000267163.4:c.-124G>A ENSP00000267163.4:n.-124G>A
ENST00000467505.5:c.-124G>A ENSP00000434702.1:n.-124G>A
ENST00000525036.1:n.39G>A
NM_000321.2:c.-124G>A , LRG_517t1:c.-124G>A NP_000312.2:n.-124G>A
NM_000321.3:c.-124G>A MANE Select NP_000312.2:n.-124G>A