Canonical Allele Identifier: CA2728034231
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138144703
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381220A>T , CM000675.2:g.48381220A>T GRCh38
NC_000013.10:g.48955356A>T , CM000675.1:g.48955356A>T GRCh37
NC_000013.9:g.47853357A>T NCBI36
NG_009009.1:g.82474A>T , LRG_517:g.82474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-27A>T MANE Select ENSP00000267163.4:n.1499-27A>T
ENST00000650461.1:c.1499-27A>T ENSP00000497193.1:n.1499-27A>T
ENST00000267163.4:c.1499-27A>T ENSP00000267163.4:n.1499-27A>T
NM_000321.2:c.1499-27A>T , LRG_517t1:c.1499-27A>T NP_000312.2:n.1499-27A>T
XM_011535171.1:c.1238-27A>T XP_011533473.1:n.1238-27A>T
XM_011535171.2:c.1238-27A>T XP_011533473.1:n.1238-27A>T
NM_000321.3:c.1499-27A>T MANE Select NP_000312.2:n.1499-27A>T
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