Canonical Allele Identifier: CA471507272

Gene: RBM20

Linked Data

• ClinVar Variation Id: 1587701
• ClinVar RCV Id: RCV002103481
• dbSNP Id: rs2135106282
• MyVariant Identifiers: chr10:g.112572648T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812890T>C , CM000672.2:g.110812890T>C	GRCh38
NC_000010.10:g.112572648T>C , CM000672.1:g.112572648T>C	GRCh37
NC_000010.9:g.112562638T>C	NCBI36
NG_021177.1:g.173494T>C , LRG_382:g.173494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2493T>C MANE Select	ENSP00000358532.3:p.Thr831=
ENST00000369519.3:c.2493T>C	ENSP00000358532.3:p.Thr831=
NM_001134363.2:c.2493T>C	NP_001127835.2:p.Thr831=
XM_011539697.1:c.2109T>C	XP_011537999.1:p.Thr703=
XM_017016103.2:c.2328T>C	XP_016871592.1:p.Thr776=
XM_017016104.2:c.2109T>C	XP_016871593.1:p.Thr703=
NM_001134363.3:c.2493T>C MANE Select	NP_001127835.2:p.Thr831=