Canonical Allele Identifier: CA2089972179
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381223G= , CM000675.2:g.48381223G= GRCh38
NC_000013.10:g.48955359G= , CM000675.1:g.48955359G= GRCh37
NC_000013.9:g.47853360G= NCBI36
NG_009009.1:g.82477G= , LRG_517:g.82477G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-24G= MANE Select ENSP00000267163.4:n.1499-24G=
ENST00000650461.1:c.1499-24G= ENSP00000497193.1:n.1499-24G=
ENST00000267163.4:c.1499-24G= ENSP00000267163.4:n.1499-24G=
NM_000321.2:c.1499-24G= , LRG_517t1:c.1499-24G= NP_000312.2:n.1499-24G=
XM_011535171.1:c.1238-24G= XP_011533473.1:n.1238-24G=
XM_011535171.2:c.1238-24G= XP_011533473.1:n.1238-24G=
NM_000321.3:c.1499-24G= MANE Select NP_000312.2:n.1499-24G=
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