Canonical Allele Identifier: CA335551
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 202064
ClinVar RCV Id: RCV000477478 RCV000769265 RCV002408814
dbSNP Id: rs143785916
ExAC: 10:112572077 G / A
gnomAD v2: 10-112572077-G-A
gnomAD v3: 10-110812319-G-A
gnomAD v4: 10-110812319-G-A
MyVariant Identifiers: chr10:g.112572077G>A (hg19) chr10:g.110812319G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812319G>A , CM000672.2:g.110812319G>A GRCh38
NC_000010.10:g.112572077G>A , CM000672.1:g.112572077G>A GRCh37
NC_000010.9:g.112562067G>A NCBI36
NG_021177.1:g.172923G>A , LRG_382:g.172923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1922G>A MANE Select ENSP00000358532.3:p.Arg641Gln
ENST00000369519.3:c.1922G>A ENSP00000358532.3:p.Arg641Gln
NM_001134363.2:c.1922G>A NP_001127835.2:p.Arg641Gln
XM_011539697.1:c.1538G>A XP_011537999.1:p.Arg513Gln
XM_017016103.2:c.1757G>A XP_016871592.1:p.Arg586Gln
XM_017016104.2:c.1538G>A XP_016871593.1:p.Arg513Gln
NM_001134363.3:c.1922G>A MANE Select NP_001127835.2:p.Arg641Gln
Search 100 bp 5'
Search 100 bp 3'