Canonical Allele Identifier: CA955793064
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1185277340
gnomAD v3: 13-48464945-C-A
gnomAD v4: 13-48464945-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464945C>A , CM000675.2:g.48464945C>A GRCh38
NC_000013.10:g.49039081C>A , CM000675.1:g.49039081C>A GRCh37
NC_000013.9:g.47937082C>A NCBI36
NG_009009.1:g.166199C>A , LRG_517:g.166199C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-53C>A MANE Select ENSP00000267163.4:n.2212-53C>A
ENST00000643064.1:c.194+83502C>A
ENST00000650461.1:c.2212-53C>A ENSP00000497193.1:n.2212-53C>A
ENST00000267163.4:c.2212-53C>A ENSP00000267163.4:n.2212-53C>A
NM_000321.2:c.2212-53C>A , LRG_517t1:c.2212-53C>A NP_000312.2:n.2212-53C>A
XM_011535171.1:c.1951-53C>A XP_011533473.1:n.1951-53C>A
XM_011535171.2:c.1951-53C>A XP_011533473.1:n.1951-53C>A
NM_000321.3:c.2212-53C>A MANE Select NP_000312.2:n.2212-53C>A
Search 100 bp 5'
Search 100 bp 3'