Canonical Allele Identifier: CA378370679
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233202
ClinVar RCV Id: RCV004525791
gnomAD v4: 10-110812377-C-A
MyVariant Identifiers: chr10:g.112572135C>A (hg19) chr10:g.110812377C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812377C>A , CM000672.2:g.110812377C>A GRCh38
NC_000010.10:g.112572135C>A , CM000672.1:g.112572135C>A GRCh37
NC_000010.9:g.112562125C>A NCBI36
NG_021177.1:g.172981C>A , LRG_382:g.172981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1980C>A MANE Select ENSP00000358532.3:p.Ser660Arg
ENST00000369519.3:c.1980C>A ENSP00000358532.3:p.Ser660Arg
NM_001134363.2:c.1980C>A NP_001127835.2:p.Ser660Arg
XM_011539697.1:c.1596C>A XP_011537999.1:p.Ser532Arg
XM_017016103.2:c.1815C>A XP_016871592.1:p.Ser605Arg
XM_017016104.2:c.1596C>A XP_016871593.1:p.Ser532Arg
NM_001134363.3:c.1980C>A MANE Select NP_001127835.2:p.Ser660Arg
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