Canonical Allele Identifier: CA471368123

Gene: RBM20

Linked Data

• ClinVar Variation Id: 1020495
• ClinVar RCV Id: RCV001320079
• dbSNP Id: rs1844781108
• MyVariant Identifiers: chr10:g.112572174G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812416G>T , CM000672.2:g.110812416G>T	GRCh38
NC_000010.10:g.112572174G>T , CM000672.1:g.112572174G>T	GRCh37
NC_000010.9:g.112562164G>T	NCBI36
NG_021177.1:g.173020G>T , LRG_382:g.173020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2019G>T MANE Select	ENSP00000358532.3:p.Arg673=
ENST00000369519.3:c.2019G>T	ENSP00000358532.3:p.Arg673=
NM_001134363.2:c.2019G>T	NP_001127835.2:p.Arg673=
XM_011539697.1:c.1635G>T	XP_011537999.1:p.Arg545=
XM_017016103.2:c.1854G>T	XP_016871592.1:p.Arg618=
XM_017016104.2:c.1635G>T	XP_016871593.1:p.Arg545=
NM_001134363.3:c.2019G>T MANE Select	NP_001127835.2:p.Arg673=