Canonical Allele Identifier: CA10639627
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312278
ClinVar RCV Id: RCV000336808
dbSNP Id: rs886050265
gnomAD v4: 13-48303757-C-A
MyVariant Identifiers: chr13:g.48877893C>A (hg19) chr13:g.48303757C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303757C>A , CM000675.2:g.48303757C>A GRCh38
NC_000013.10:g.48877893C>A , CM000675.1:g.48877893C>A GRCh37
NC_000013.9:g.47775894C>A NCBI36
NG_009009.1:g.5011C>A , LRG_517:g.5011C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-156C>A MANE Select ENSP00000267163.4:n.-156C>A
ENST00000646097.1:c.-156C>A ENSP00000496556.1:n.-156C>A
ENST00000650461.1:c.-156C>A ENSP00000497193.1:n.-156C>A
ENST00000525036.1:n.7C>A
NM_000321.2:c.-156C>A , LRG_517t1:c.-156C>A NP_000312.2:n.-156C>A
NM_000321.3:c.-156C>A MANE Select NP_000312.2:n.-156C>A
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