Canonical Allele Identifier: CA2575413214
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48342539-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342539C>A , CM000675.2:g.48342539C>A GRCh38
NC_000013.10:g.48916675C>A , CM000675.1:g.48916675C>A GRCh37
NC_000013.9:g.47814676C>A NCBI36
NG_009009.1:g.43793C>A , LRG_517:g.43793C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.265-60C>A MANE Select ENSP00000267163.4:n.265-60C>A
ENST00000650461.1:c.265-60C>A ENSP00000497193.1:n.265-60C>A
ENST00000267163.4:c.265-60C>A ENSP00000267163.4:n.265-60C>A
ENST00000467505.5:c.138-17478C>A ENSP00000434702.1:n.138-17478C>A
ENST00000525036.1:n.427-60C>A
NM_000321.2:c.265-60C>A , LRG_517t1:c.265-60C>A NP_000312.2:n.265-60C>A
XM_011535171.1:c.4-60C>A XP_011533473.1:n.4-60C>A
XM_011535171.2:c.4-60C>A XP_011533473.1:n.4-60C>A
NM_000321.3:c.265-60C>A MANE Select NP_000312.2:n.265-60C>A
Search 100 bp 5'
Search 100 bp 3'