Canonical Allele Identifier: CA955793063
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1593538966
gnomAD v3: 13-48464938-C-A
gnomAD v4: 13-48464938-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464938C>A , CM000675.2:g.48464938C>A GRCh38
NC_000013.10:g.49039074C>A , CM000675.1:g.49039074C>A GRCh37
NC_000013.9:g.47937075C>A NCBI36
NG_009009.1:g.166192C>A , LRG_517:g.166192C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-60C>A MANE Select ENSP00000267163.4:n.2212-60C>A
ENST00000643064.1:c.194+83495C>A
ENST00000650461.1:c.2212-60C>A ENSP00000497193.1:n.2212-60C>A
ENST00000267163.4:c.2212-60C>A ENSP00000267163.4:n.2212-60C>A
NM_000321.2:c.2212-60C>A , LRG_517t1:c.2212-60C>A NP_000312.2:n.2212-60C>A
XM_011535171.1:c.1951-60C>A XP_011533473.1:n.1951-60C>A
XM_011535171.2:c.1951-60C>A XP_011533473.1:n.1951-60C>A
NM_000321.3:c.2212-60C>A MANE Select NP_000312.2:n.2212-60C>A
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