Canonical Allele Identifier: CA249269302
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs139742917
MyVariant Identifiers: chr13:g.48923020G>A (hg19) chr13:g.48348884G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348884G>A , CM000675.2:g.48348884G>A GRCh38
NC_000013.10:g.48923020G>A , CM000675.1:g.48923020G>A GRCh37
NC_000013.9:g.47821021G>A NCBI36
NG_009009.1:g.50138G>A , LRG_517:g.50138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-72G>A MANE Select ENSP00000267163.4:n.540-72G>A
ENST00000650461.1:c.540-72G>A ENSP00000497193.1:n.540-72G>A
ENST00000267163.4:c.540-72G>A ENSP00000267163.4:n.540-72G>A
ENST00000467505.5:c.138-11133G>A ENSP00000434702.1:n.138-11133G>A
ENST00000525036.1:n.702-72G>A
NM_000321.2:c.540-72G>A , LRG_517t1:c.540-72G>A NP_000312.2:n.540-72G>A
XM_011535171.1:c.279-72G>A XP_011533473.1:n.279-72G>A
XM_011535171.2:c.279-72G>A XP_011533473.1:n.279-72G>A
NM_000321.3:c.540-72G>A MANE Select NP_000312.2:n.540-72G>A
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