Canonical Allele Identifier: CA213224285
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2074525
ClinVar RCV Id: RCV002976274
dbSNP Id: rs757091864
gnomAD v2: 10-112572527-G-A
gnomAD v4: 10-110812769-G-A
MyVariant Identifiers: chr10:g.112572527G>A (hg19) chr10:g.110812769G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812769G>A , CM000672.2:g.110812769G>A GRCh38
NC_000010.10:g.112572527G>A , CM000672.1:g.112572527G>A GRCh37
NC_000010.9:g.112562517G>A NCBI36
NG_021177.1:g.173373G>A , LRG_382:g.173373G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.2372G>A MANE Select ENSP00000358532.3:p.Arg791Gln
ENST00000369519.3:c.2372G>A ENSP00000358532.3:p.Arg791Gln
NM_001134363.2:c.2372G>A NP_001127835.2:p.Arg791Gln
XM_011539697.1:c.1988G>A XP_011537999.1:p.Arg663Gln
XM_017016103.2:c.2207G>A XP_016871592.1:p.Arg736Gln
XM_017016104.2:c.1988G>A XP_016871593.1:p.Arg663Gln
NM_001134363.3:c.2372G>A MANE Select NP_001127835.2:p.Arg791Gln
Search 100 bp 5'
Search 100 bp 3'