Canonical Allele Identifier: CA378373675
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398936
ClinVar RCV Id: RCV001893664
dbSNP Id: rs2135105962
gnomAD v4: 10-110812780-C-A
MyVariant Identifiers: chr10:g.112572538C>A (hg19) chr10:g.110812780C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812780C>A , CM000672.2:g.110812780C>A GRCh38
NC_000010.10:g.112572538C>A , CM000672.1:g.112572538C>A GRCh37
NC_000010.9:g.112562528C>A NCBI36
NG_021177.1:g.173384C>A , LRG_382:g.173384C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2383C>A MANE Select ENSP00000358532.3:p.His795Asn
ENST00000369519.3:c.2383C>A ENSP00000358532.3:p.His795Asn
NM_001134363.2:c.2383C>A NP_001127835.2:p.His795Asn
XM_011539697.1:c.1999C>A XP_011537999.1:p.His667Asn
XM_017016103.2:c.2218C>A XP_016871592.1:p.His740Asn
XM_017016104.2:c.1999C>A XP_016871593.1:p.His667Asn
NM_001134363.3:c.2383C>A MANE Select NP_001127835.2:p.His795Asn
Search 100 bp 5'
Search 100 bp 3'