Canonical Allele Identifier: CA2622985545
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48464950-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464950A>G , CM000675.2:g.48464950A>G GRCh38
NC_000013.10:g.49039086A>G , CM000675.1:g.49039086A>G GRCh37
NC_000013.9:g.47937087A>G NCBI36
NG_009009.1:g.166204A>G , LRG_517:g.166204A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-48A>G MANE Select ENSP00000267163.4:n.2212-48A>G
ENST00000643064.1:c.194+83507A>G
ENST00000650461.1:c.2212-48A>G ENSP00000497193.1:n.2212-48A>G
ENST00000267163.4:c.2212-48A>G ENSP00000267163.4:n.2212-48A>G
NM_000321.2:c.2212-48A>G , LRG_517t1:c.2212-48A>G NP_000312.2:n.2212-48A>G
XM_011535171.1:c.1951-48A>G XP_011533473.1:n.1951-48A>G
XM_011535171.2:c.1951-48A>G XP_011533473.1:n.1951-48A>G
NM_000321.3:c.2212-48A>G MANE Select NP_000312.2:n.2212-48A>G
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