Canonical Allele Identifier: CA2622981272
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48380038-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380038A>G , CM000675.2:g.48380038A>G GRCh38
NC_000013.10:g.48954174A>G , CM000675.1:g.48954174A>G GRCh37
NC_000013.9:g.47852175A>G NCBI36
NG_009009.1:g.81292A>G , LRG_517:g.81292A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1390-15A>G MANE Select ENSP00000267163.4:n.1390-15A>G
ENST00000650461.1:c.1390-15A>G ENSP00000497193.1:n.1390-15A>G
ENST00000267163.4:c.1390-15A>G ENSP00000267163.4:n.1390-15A>G
NM_000321.2:c.1390-15A>G , LRG_517t1:c.1390-15A>G NP_000312.2:n.1390-15A>G
XM_011535171.1:c.1129-15A>G XP_011533473.1:n.1129-15A>G
XM_011535171.2:c.1129-15A>G XP_011533473.1:n.1129-15A>G
NM_000321.3:c.1390-15A>G MANE Select NP_000312.2:n.1390-15A>G
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