Canonical Allele Identifier: CA2622977112
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48303764-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303764G>C , CM000675.2:g.48303764G>C GRCh38
NC_000013.10:g.48877900G>C , CM000675.1:g.48877900G>C GRCh37
NC_000013.9:g.47775901G>C NCBI36
NG_009009.1:g.5018G>C , LRG_517:g.5018G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-149G>C MANE Select ENSP00000267163.4:n.-149G>C
ENST00000646097.1:c.-149G>C ENSP00000496556.1:n.-149G>C
ENST00000650461.1:c.-149G>C ENSP00000497193.1:n.-149G>C
ENST00000525036.1:n.14G>C
NM_000321.2:c.-149G>C , LRG_517t1:c.-149G>C NP_000312.2:n.-149G>C
NM_000321.3:c.-149G>C MANE Select NP_000312.2:n.-149G>C
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