Canonical Allele Identifier: CA2089970872
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380041T= , CM000675.2:g.48380041T= GRCh38
NC_000013.10:g.48954177T= , CM000675.1:g.48954177T= GRCh37
NC_000013.9:g.47852178T= NCBI36
NG_009009.1:g.81295T= , LRG_517:g.81295T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-12T= MANE Select ENSP00000267163.4:n.1390-12T=
ENST00000650461.1:c.1390-12T= ENSP00000497193.1:n.1390-12T=
ENST00000267163.4:c.1390-12T= ENSP00000267163.4:n.1390-12T=
NM_000321.2:c.1390-12T= , LRG_517t1:c.1390-12T= NP_000312.2:n.1390-12T=
XM_011535171.1:c.1129-12T= XP_011533473.1:n.1129-12T=
XM_011535171.2:c.1129-12T= XP_011533473.1:n.1129-12T=
NM_000321.3:c.1390-12T= MANE Select NP_000312.2:n.1390-12T=
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