Canonical Allele Identifier: CA2090013926
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949336479

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48452892A>T , CM000675.2:g.48452892A>T GRCh38
NC_000013.10:g.49027028A>T , CM000675.1:g.49027028A>T GRCh37
NC_000013.9:g.47925029A>T NCBI36
NG_009009.1:g.154146A>T , LRG_517:g.154146A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1696-101A>T MANE Select ENSP00000267163.4:n.1696-101A>T
ENST00000643064.1:c.194+71449A>T
ENST00000650461.1:c.1696-101A>T ENSP00000497193.1:n.1696-101A>T
ENST00000267163.4:c.1696-101A>T ENSP00000267163.4:n.1696-101A>T
ENST00000480491.1:n.395-101A>T
NM_000321.2:c.1696-101A>T , LRG_517t1:c.1696-101A>T NP_000312.2:n.1696-101A>T
XM_011535171.1:c.1435-101A>T XP_011533473.1:n.1435-101A>T
XM_011535171.2:c.1435-101A>T XP_011533473.1:n.1435-101A>T
NM_000321.3:c.1696-101A>T MANE Select NP_000312.2:n.1696-101A>T