Canonical Allele Identifier: CA249313455
Gene: RB1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4151620

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48474923C>G , CM000675.2:g.48474923C>G GRCh38
NC_000013.10:g.49049059C>G , CM000675.1:g.49049059C>G GRCh37
NC_000013.9:g.47947060C>G NCBI36
NG_009009.1:g.176177C>G , LRG_517:g.176177C>G

Transcript Alleles

HGVS Amino-acid change
NM_000321.2:c.2520+1533C>G , LRG_517t1:c.2520+1533C>G NP_000312.2:p.=
XM_011535171.1:c.2259+1533C>G XP_011533473.1:p.=
XM_011535171.2:c.2259+1533C>G XP_011533473.1:p.=
ENST00000267163.4:c.2520+1533C>G ENSP00000267163.4:p.=