Canonical Allele Identifier: CA2089972411
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952521641
gnomAD v4: 13-48348895-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348895A>G , CM000675.2:g.48348895A>G GRCh38
NC_000013.10:g.48923031A>G , CM000675.1:g.48923031A>G GRCh37
NC_000013.9:g.47821032A>G NCBI36
NG_009009.1:g.50149A>G , LRG_517:g.50149A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-61A>G MANE Select ENSP00000267163.4:n.540-61A>G
ENST00000650461.1:c.540-61A>G ENSP00000497193.1:n.540-61A>G
ENST00000267163.4:c.540-61A>G ENSP00000267163.4:n.540-61A>G
ENST00000467505.5:c.138-11122A>G ENSP00000434702.1:n.138-11122A>G
ENST00000525036.1:n.702-61A>G
NM_000321.2:c.540-61A>G , LRG_517t1:c.540-61A>G NP_000312.2:n.540-61A>G
XM_011535171.1:c.279-61A>G XP_011533473.1:n.279-61A>G
XM_011535171.2:c.279-61A>G XP_011533473.1:n.279-61A>G
NM_000321.3:c.540-61A>G MANE Select NP_000312.2:n.540-61A>G
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