Canonical Allele Identifier: CA388166856
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138336253

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459781A>G , CM000675.2:g.48459781A>G GRCh38
NC_000013.10:g.49033917A>G , CM000675.1:g.49033917A>G GRCh37
NC_000013.9:g.47931918A>G NCBI36
NG_009009.1:g.161035A>G , LRG_517:g.161035A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2054A>G MANE Select ENSP00000267163.4:p.Gln685Arg
ENST00000643064.1:c.194+78338A>G
ENST00000650461.1:c.2054A>G ENSP00000497193.1:p.Gln685Arg
ENST00000267163.4:c.2054A>G ENSP00000267163.4:p.Gln685Arg
NM_000321.2:c.2054A>G , LRG_517t1:c.2054A>G NP_000312.2:p.Gln685Arg
XM_011535171.1:c.1793A>G XP_011533473.1:p.Gln598Arg
XM_011535171.2:c.1793A>G XP_011533473.1:p.Gln598Arg
NM_000321.3:c.2054A>G MANE Select NP_000312.2:p.Gln685Arg