Canonical Allele Identifier: CA13830799
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs4151580

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48453505G>A , CM000675.2:g.48453505G>A GRCh38
NC_000013.10:g.49027641G>A , CM000675.1:g.49027641G>A GRCh37
NC_000013.9:g.47925642G>A NCBI36
NG_009009.1:g.154759G>A , LRG_517:g.154759G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1814+394G>A MANE Select ENSP00000267163.4:n.1814+394G>A
ENST00000643064.1:c.194+72062G>A
ENST00000650461.1:c.1814+394G>A ENSP00000497193.1:n.1814+394G>A
ENST00000267163.4:c.1814+394G>A ENSP00000267163.4:n.1814+394G>A
ENST00000480491.1:n.513+394G>A
NM_000321.2:c.1814+394G>A , LRG_517t1:c.1814+394G>A NP_000312.2:n.1814+394G>A
XM_011535171.1:c.1553+394G>A XP_011533473.1:n.1553+394G>A
XM_011535171.2:c.1553+394G>A XP_011533473.1:n.1553+394G>A
NM_000321.3:c.1814+394G>A MANE Select NP_000312.2:n.1814+394G>A