Canonical Allele Identifier: CA2622985547
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48464953-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464953T>G , CM000675.2:g.48464953T>G GRCh38
NC_000013.10:g.49039089T>G , CM000675.1:g.49039089T>G GRCh37
NC_000013.9:g.47937090T>G NCBI36
NG_009009.1:g.166207T>G , LRG_517:g.166207T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-45T>G MANE Select ENSP00000267163.4:n.2212-45T>G
ENST00000643064.1:c.194+83510T>G
ENST00000650461.1:c.2212-45T>G ENSP00000497193.1:n.2212-45T>G
ENST00000267163.4:c.2212-45T>G ENSP00000267163.4:n.2212-45T>G
NM_000321.2:c.2212-45T>G , LRG_517t1:c.2212-45T>G NP_000312.2:n.2212-45T>G
XM_011535171.1:c.1951-45T>G XP_011533473.1:n.1951-45T>G
XM_011535171.2:c.1951-45T>G XP_011533473.1:n.1951-45T>G
NM_000321.3:c.2212-45T>G MANE Select NP_000312.2:n.2212-45T>G
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