Canonical Allele Identifier: CA2622977116
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138026225
gnomAD v4: 13-48303768-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303768G>A , CM000675.2:g.48303768G>A GRCh38
NC_000013.10:g.48877904G>A , CM000675.1:g.48877904G>A GRCh37
NC_000013.9:g.47775905G>A NCBI36
NG_009009.1:g.5022G>A , LRG_517:g.5022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-145G>A MANE Select ENSP00000267163.4:n.-145G>A
ENST00000646097.1:c.-145G>A ENSP00000496556.1:n.-145G>A
ENST00000650461.1:c.-145G>A ENSP00000497193.1:n.-145G>A
ENST00000525036.1:n.18G>A
NM_000321.2:c.-145G>A , LRG_517t1:c.-145G>A NP_000312.2:n.-145G>A
NM_000321.3:c.-145G>A MANE Select NP_000312.2:n.-145G>A
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