Canonical Allele Identifier: CA133390

Gene: RBM20

Linked Data

• ClinVar Variation Id: 44018
• ClinVar RCV Id: RCV000036993 ; RCV000469728 ; RCV000618530 ; RCV000770272 ; RCV000852627
• dbSNP Id: rs199868951
• ExAC: 10:112540815 G / A
• gnomAD v2: 10-112540815-G-A
• gnomAD v3: 10-110781057-G-A
• gnomAD v4: 10-110781057-G-A
• MyVariant Identifiers: chr10:g.112540815G>A (hg19) ; chr10:g.110781057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781057G>A , CM000672.2:g.110781057G>A	GRCh38
NC_000010.10:g.112540815G>A , CM000672.1:g.112540815G>A	GRCh37
NC_000010.9:g.112530805G>A	NCBI36
NG_021177.1:g.141661G>A , LRG_382:g.141661G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369519.4:c.448G>A MANE Select	ENSP00000358532.3:p.Ala150Thr
ENST00000369519.3:c.448G>A	ENSP00000358532.3:p.Ala150Thr
NM_001134363.2:c.448G>A	NP_001127835.2:p.Ala150Thr
XM_011539697.1:c.64G>A	XP_011537999.1:p.Ala22Thr
XM_017016103.2:c.283G>A	XP_016871592.1:p.Ala95Thr
XM_017016104.2:c.64G>A	XP_016871593.1:p.Ala22Thr
NM_001134363.3:c.448G>A MANE Select	NP_001127835.2:p.Ala150Thr