Canonical Allele Identifier: CA378370292
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 689585
ClinVar RCV Id: RCV000850340 RCV002409006
dbSNP Id: rs267607001
gnomAD v4: 10-110812298-G-T
MyVariant Identifiers: chr10:g.112572056G>T (hg19) chr10:g.110812298G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812298G>T , CM000672.2:g.110812298G>T GRCh38
NC_000010.10:g.112572056G>T , CM000672.1:g.112572056G>T GRCh37
NC_000010.9:g.112562046G>T NCBI36
NG_021177.1:g.172902G>T , LRG_382:g.172902G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.1901G>T MANE Select ENSP00000358532.3:p.Arg634Leu
ENST00000369519.3:c.1901G>T ENSP00000358532.3:p.Arg634Leu
NM_001134363.2:c.1901G>T NP_001127835.2:p.Arg634Leu
XM_011539697.1:c.1517G>T XP_011537999.1:p.Arg506Leu
XM_017016103.2:c.1736G>T XP_016871592.1:p.Arg579Leu
XM_017016104.2:c.1517G>T XP_016871593.1:p.Arg506Leu
NM_001134363.3:c.1901G>T MANE Select NP_001127835.2:p.Arg634Leu
Search 100 bp 5'
Search 100 bp 3'