Canonical Allele Identifier: CA483559391
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138144863
MyVariant Identifiers: chr13:g.48955393T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381257T>A , CM000675.2:g.48381257T>A GRCh38
NC_000013.10:g.48955393T>A , CM000675.1:g.48955393T>A GRCh37
NC_000013.9:g.47853394T>A NCBI36
NG_009009.1:g.82511T>A , LRG_517:g.82511T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1509T>A MANE Select ENSP00000267163.4:p.Ser503=
ENST00000643064.1:c.8T>A
ENST00000650461.1:c.1509T>A ENSP00000497193.1:p.Ser503=
ENST00000267163.4:c.1509T>A ENSP00000267163.4:p.Ser503=
NM_000321.2:c.1509T>A , LRG_517t1:c.1509T>A NP_000312.2:p.Ser503=
XM_011535171.1:c.1248T>A XP_011533473.1:p.Ser416=
XM_011535171.2:c.1248T>A XP_011533473.1:p.Ser416=
NM_000321.3:c.1509T>A MANE Select NP_000312.2:p.Ser503=
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