Canonical Allele Identifier: CA388159957
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364928T>G , CM000675.2:g.48364928T>G GRCh38
NC_000013.10:g.48939064T>G , CM000675.1:g.48939064T>G GRCh37
NC_000013.9:g.47837065T>G NCBI36
NG_009009.1:g.66182T>G , LRG_517:g.66182T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.896T>G MANE Select ENSP00000267163.4:p.Phe299Cys
ENST00000650461.1:c.896T>G ENSP00000497193.1:p.Phe299Cys
ENST00000267163.4:c.896T>G ENSP00000267163.4:p.Phe299Cys
NM_000321.2:c.896T>G , LRG_517t1:c.896T>G NP_000312.2:p.Phe299Cys
XM_011535171.1:c.635T>G XP_011533473.1:p.Phe212Cys
XM_011535171.2:c.635T>G XP_011533473.1:p.Phe212Cys
XR_002957522.1:n.170A>C
NM_000321.3:c.896T>G MANE Select NP_000312.2:p.Phe299Cys