Canonical Allele Identifier: CA335512

Gene: RBM20

Linked Data

• ClinVar Variation Id: 202044
• ClinVar RCV Id: RCV000183827 ; RCV000619976 ; RCV000690518
• dbSNP Id: rs183007628
• gnomAD v2: 10-112557341-G-A
• gnomAD v3: 10-110797583-G-A
• gnomAD v4: 10-110797583-G-A
• MyVariant Identifiers: chr10:g.112557341G>A (hg19) ; chr10:g.110797583G>A (hg38)
• PubMed: PMID:20590677 ; PMID:22466703

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110797583G>A , CM000672.2:g.110797583G>A	GRCh38
NC_000010.10:g.112557341G>A , CM000672.1:g.112557341G>A	GRCh37
NC_000010.9:g.112547331G>A	NCBI36
NG_021177.1:g.158187G>A , LRG_382:g.158187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1603G>A MANE Select	ENSP00000358532.3:p.Val535Ile
ENST00000369519.3:c.1603G>A	ENSP00000358532.3:p.Val535Ile
NM_001134363.2:c.1603G>A	NP_001127835.2:p.Val535Ile
XM_011539697.1:c.1219G>A	XP_011537999.1:p.Val407Ile
XM_017016103.2:c.1438G>A	XP_016871592.1:p.Val480Ile
XM_017016104.2:c.1219G>A	XP_016871593.1:p.Val407Ile
NM_001134363.3:c.1603G>A MANE Select	NP_001127835.2:p.Val535Ile