Canonical Allele Identifier: CA378372392
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 538028
ClinVar RCV Id: RCV000647165 RCV001528428 RCV001375652 RCV002424486
dbSNP Id: rs1393804220
gnomAD v3: 10-110812573-C-T
gnomAD v4: 10-110812573-C-T
MyVariant Identifiers: chr10:g.112572331C>T (hg19) chr10:g.110812573C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812573C>T , CM000672.2:g.110812573C>T GRCh38
NC_000010.10:g.112572331C>T , CM000672.1:g.112572331C>T GRCh37
NC_000010.9:g.112562321C>T NCBI36
NG_021177.1:g.173177C>T , LRG_382:g.173177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2176C>T MANE Select ENSP00000358532.3:p.Arg726Ter
ENST00000369519.3:c.2176C>T ENSP00000358532.3:p.Arg726Ter
NM_001134363.2:c.2176C>T NP_001127835.2:p.Arg726Ter
XM_011539697.1:c.1792C>T XP_011537999.1:p.Arg598Ter
XM_017016103.2:c.2011C>T XP_016871592.1:p.Arg671Ter
XM_017016104.2:c.1792C>T XP_016871593.1:p.Arg598Ter
NM_001134363.3:c.2176C>T MANE Select NP_001127835.2:p.Arg726Ter
Search 100 bp 5'
Search 100 bp 3'