Canonical Allele Identifier: CA2622979075
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48348827-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348827A>C , CM000675.2:g.48348827A>C GRCh38
NC_000013.10:g.48922963A>C , CM000675.1:g.48922963A>C GRCh37
NC_000013.9:g.47820964A>C NCBI36
NG_009009.1:g.50081A>C , LRG_517:g.50081A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-129A>C MANE Select ENSP00000267163.4:n.540-129A>C
ENST00000650461.1:c.540-129A>C ENSP00000497193.1:n.540-129A>C
ENST00000267163.4:c.540-129A>C ENSP00000267163.4:n.540-129A>C
ENST00000467505.5:c.138-11190A>C ENSP00000434702.1:n.138-11190A>C
ENST00000525036.1:n.702-129A>C
NM_000321.2:c.540-129A>C , LRG_517t1:c.540-129A>C NP_000312.2:n.540-129A>C
XM_011535171.1:c.279-129A>C XP_011533473.1:n.279-129A>C
XM_011535171.2:c.279-129A>C XP_011533473.1:n.279-129A>C
NM_000321.3:c.540-129A>C MANE Select NP_000312.2:n.540-129A>C
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