Canonical Allele Identifier: CA2622981273
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138142115
gnomAD v4: 13-48380040-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380040T>A , CM000675.2:g.48380040T>A GRCh38
NC_000013.10:g.48954176T>A , CM000675.1:g.48954176T>A GRCh37
NC_000013.9:g.47852177T>A NCBI36
NG_009009.1:g.81294T>A , LRG_517:g.81294T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-13T>A MANE Select ENSP00000267163.4:n.1390-13T>A
ENST00000650461.1:c.1390-13T>A ENSP00000497193.1:n.1390-13T>A
ENST00000267163.4:c.1390-13T>A ENSP00000267163.4:n.1390-13T>A
NM_000321.2:c.1390-13T>A , LRG_517t1:c.1390-13T>A NP_000312.2:n.1390-13T>A
XM_011535171.1:c.1129-13T>A XP_011533473.1:n.1129-13T>A
XM_011535171.2:c.1129-13T>A XP_011533473.1:n.1129-13T>A
NM_000321.3:c.1390-13T>A MANE Select NP_000312.2:n.1390-13T>A
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