Canonical Allele Identifier: CA2622977158
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303797T>G , CM000675.2:g.48303797T>G GRCh38
NC_000013.10:g.48877933T>G , CM000675.1:g.48877933T>G GRCh37
NC_000013.9:g.47775934T>G NCBI36
NG_009009.1:g.5051T>G , LRG_517:g.5051T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-116T>G MANE Select ENSP00000267163.4:n.-116T>G
ENST00000646097.1:c.-116T>G ENSP00000496556.1:n.-116T>G
ENST00000650461.1:c.-116T>G ENSP00000497193.1:n.-116T>G
ENST00000267163.4:c.-116T>G ENSP00000267163.4:n.-116T>G
ENST00000467505.5:c.-116T>G ENSP00000434702.1:n.-116T>G
ENST00000525036.1:n.47T>G
NM_000321.2:c.-116T>G , LRG_517t1:c.-116T>G NP_000312.2:n.-116T>G
NM_000321.3:c.-116T>G MANE Select NP_000312.2:n.-116T>G