Canonical Allele Identifier: CA378372413

Gene: RBM20

Linked Data

• ClinVar Variation Id: 2761956
• ClinVar RCV Id: RCV003496013
• MyVariant Identifiers: chr10:g.112572337G>A (hg19) ; chr10:g.110812579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812579G>A , CM000672.2:g.110812579G>A	GRCh38
NC_000010.10:g.112572337G>A , CM000672.1:g.112572337G>A	GRCh37
NC_000010.9:g.112562327G>A	NCBI36
NG_021177.1:g.173183G>A , LRG_382:g.173183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2182G>A MANE Select	ENSP00000358532.3:p.Glu728Lys
ENST00000369519.3:c.2182G>A	ENSP00000358532.3:p.Glu728Lys
NM_001134363.2:c.2182G>A	NP_001127835.2:p.Glu728Lys
XM_011539697.1:c.1798G>A	XP_011537999.1:p.Glu600Lys
XM_017016103.2:c.2017G>A	XP_016871592.1:p.Glu673Lys
XM_017016104.2:c.1798G>A	XP_016871593.1:p.Glu600Lys
NM_001134363.3:c.2182G>A MANE Select	NP_001127835.2:p.Glu728Lys