Canonical Allele Identifier: CA378371941
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 432859
ClinVar RCV Id: RCV000498338 RCV001865572
dbSNP Id: rs1554842725
gnomAD v4: 10-110812516-T-A
MyVariant Identifiers: chr10:g.112572274T>A (hg19) chr10:g.110812516T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812516T>A , CM000672.2:g.110812516T>A GRCh38
NC_000010.10:g.112572274T>A , CM000672.1:g.112572274T>A GRCh37
NC_000010.9:g.112562264T>A NCBI36
NG_021177.1:g.173120T>A , LRG_382:g.173120T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2119T>A MANE Select ENSP00000358532.3:p.Trp707Arg
ENST00000369519.3:c.2119T>A ENSP00000358532.3:p.Trp707Arg
NM_001134363.2:c.2119T>A NP_001127835.2:p.Trp707Arg
XM_011539697.1:c.1735T>A XP_011537999.1:p.Trp579Arg
XM_017016103.2:c.1954T>A XP_016871592.1:p.Trp652Arg
XM_017016104.2:c.1735T>A XP_016871593.1:p.Trp579Arg
NM_001134363.3:c.2119T>A MANE Select NP_001127835.2:p.Trp707Arg
Search 100 bp 5'
Search 100 bp 3'