Canonical Allele Identifier: CA184130
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 179289
ClinVar RCV Id: RCV000156078
dbSNP Id: rs727504766
gnomAD v4: 10-110644510-C-G
MyVariant Identifiers: chr10:g.112404268C>G (hg19) chr10:g.110644510C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644510C>G , CM000672.2:g.110644510C>G GRCh38
NC_000010.10:g.112404268C>G , CM000672.1:g.112404268C>G GRCh37
NC_000010.9:g.112394258C>G NCBI36
NG_021177.1:g.5114C>G , LRG_382:g.5114C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.56C>G MANE Select ENSP00000358532.3:p.Pro19Arg
ENST00000369519.3:c.56C>G ENSP00000358532.3:p.Pro19Arg
NM_001134363.2:c.56C>G NP_001127835.2:p.Pro19Arg
XM_017016103.2:c.26+1070C>G XP_016871592.1:n.26+1070C>G
NM_001134363.3:c.56C>G MANE Select NP_001127835.2:p.Pro19Arg
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