Canonical Allele Identifier: CA133396

Gene: RBM20

Linked Data

• ClinVar Variation Id: 44020
• ClinVar RCV Id: RCV000036995 ; RCV000465419 ; RCV000770273 ; RCV000248470
• dbSNP Id: rs7908490
• ExAC: 10:112540884 C / A
• gnomAD v2: 10-112540884-C-A
• gnomAD v3: 10-110781126-C-A
• gnomAD v4: 10-110781126-C-A
• MyVariant Identifiers: chr10:g.112540884C>A (hg19) ; chr10:g.110781126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781126C>A , CM000672.2:g.110781126C>A	GRCh38
NC_000010.10:g.112540884C>A , CM000672.1:g.112540884C>A	GRCh37
NC_000010.9:g.112530874C>A	NCBI36
NG_021177.1:g.141730C>A , LRG_382:g.141730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.517C>A MANE Select	ENSP00000358532.3:p.Pro173Thr
ENST00000369519.3:c.517C>A	ENSP00000358532.3:p.Pro173Thr
NM_001134363.2:c.517C>A	NP_001127835.2:p.Pro173Thr
XM_011539697.1:c.133C>A	XP_011537999.1:p.Pro45Thr
XM_017016103.2:c.352C>A	XP_016871592.1:p.Pro118Thr
XM_017016104.2:c.133C>A	XP_016871593.1:p.Pro45Thr
NM_001134363.3:c.517C>A MANE Select	NP_001127835.2:p.Pro173Thr