Canonical Allele Identifier: CA2622981512
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48381216-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381216A>G , CM000675.2:g.48381216A>G GRCh38
NC_000013.10:g.48955352A>G , CM000675.1:g.48955352A>G GRCh37
NC_000013.9:g.47853353A>G NCBI36
NG_009009.1:g.82470A>G , LRG_517:g.82470A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-31A>G MANE Select ENSP00000267163.4:n.1499-31A>G
ENST00000650461.1:c.1499-31A>G ENSP00000497193.1:n.1499-31A>G
ENST00000267163.4:c.1499-31A>G ENSP00000267163.4:n.1499-31A>G
NM_000321.2:c.1499-31A>G , LRG_517t1:c.1499-31A>G NP_000312.2:n.1499-31A>G
XM_011535171.1:c.1238-31A>G XP_011533473.1:n.1238-31A>G
XM_011535171.2:c.1238-31A>G XP_011533473.1:n.1238-31A>G
NM_000321.3:c.1499-31A>G MANE Select NP_000312.2:n.1499-31A>G
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