Canonical Allele Identifier: CA2089972241
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952518672
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348605T>G , CM000675.2:g.48348605T>G GRCh38
NC_000013.10:g.48922741T>G , CM000675.1:g.48922741T>G GRCh37
NC_000013.9:g.47820742T>G NCBI36
NG_009009.1:g.49859T>G , LRG_517:g.49859T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-351T>G MANE Select ENSP00000267163.4:n.540-351T>G
ENST00000650461.1:c.540-351T>G ENSP00000497193.1:n.540-351T>G
ENST00000267163.4:c.540-351T>G ENSP00000267163.4:n.540-351T>G
ENST00000467505.5:c.138-11412T>G ENSP00000434702.1:n.138-11412T>G
ENST00000525036.1:n.702-351T>G
NM_000321.2:c.540-351T>G , LRG_517t1:c.540-351T>G NP_000312.2:n.540-351T>G
XM_011535171.1:c.279-351T>G XP_011533473.1:n.279-351T>G
XM_011535171.2:c.279-351T>G XP_011533473.1:n.279-351T>G
NM_000321.3:c.540-351T>G MANE Select NP_000312.2:n.540-351T>G
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