Canonical Allele Identifier: CA133356
Gene: RBM20 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.110821789G>A
GRCh37 chr10:g.112581547G>A
Revel Score:
ENST00000369519 (MANE Select) 0.143
ENST00000539821 0.143
gnomAD v2:
10:112581547 G / A
gnomAD v3:
10:110821789 G / A
gnomAD v4:
chr10-110821789-G-A
Joint Max Group AF 0.04677584 (SAS)
Genomes Max Group AF 0.04692681 (SAS)
Exomes Max Group AF 0.04648533 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110821789G>A , CM000672.2:g.110821789G>A GRCh38
NC_000010.10:g.112581547G>A , CM000672.1:g.112581547G>A GRCh37
NC_000010.9:g.112571537G>A NCBI36
NG_021177.1:g.182393G>A , LRG_382:g.182393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.3170G>A MANE Select ENSP00000358532.3:p.Arg1057Gln
ENST00000369519.3:c.3170G>A ENSP00000358532.3:p.Arg1057Gln
NM_001134363.2:c.3170G>A NP_001127835.2:p.Arg1057Gln
XM_011539697.1:c.2786G>A XP_011537999.1:p.Arg929Gln
XM_017016103.2:c.3005G>A XP_016871592.1:p.Arg1002Gln
XM_017016104.2:c.2786G>A XP_016871593.1:p.Arg929Gln
NM_001134363.3:c.3170G>A MANE Select NP_001127835.2:p.Arg1057Gln
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