Canonical Allele Identifier: CA2090013585
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949427779
gnomAD v4: 13-48464943-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464943A>C , CM000675.2:g.48464943A>C GRCh38
NC_000013.10:g.49039079A>C , CM000675.1:g.49039079A>C GRCh37
NC_000013.9:g.47937080A>C NCBI36
NG_009009.1:g.166197A>C , LRG_517:g.166197A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-55A>C MANE Select ENSP00000267163.4:n.2212-55A>C
ENST00000643064.1:c.194+83500A>C
ENST00000650461.1:c.2212-55A>C ENSP00000497193.1:n.2212-55A>C
ENST00000267163.4:c.2212-55A>C ENSP00000267163.4:n.2212-55A>C
NM_000321.2:c.2212-55A>C , LRG_517t1:c.2212-55A>C NP_000312.2:n.2212-55A>C
XM_011535171.1:c.1951-55A>C XP_011533473.1:n.1951-55A>C
XM_011535171.2:c.1951-55A>C XP_011533473.1:n.1951-55A>C
NM_000321.3:c.2212-55A>C MANE Select NP_000312.2:n.2212-55A>C
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