Canonical Allele Identifier: CA378370479
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2413530
ClinVar RCV Id: RCV003104326
dbSNP Id: rs1844779186

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812345C>T , CM000672.2:g.110812345C>T GRCh38
NC_000010.10:g.112572103C>T , CM000672.1:g.112572103C>T GRCh37
NC_000010.9:g.112562093C>T NCBI36
NG_021177.1:g.172949C>T , LRG_382:g.172949C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1948C>T MANE Select ENSP00000358532.3:p.Pro650Ser
ENST00000369519.3:c.1948C>T ENSP00000358532.3:p.Pro650Ser
NM_001134363.2:c.1948C>T NP_001127835.2:p.Pro650Ser
XM_011539697.1:c.1564C>T XP_011537999.1:p.Pro522Ser
XM_017016103.2:c.1783C>T XP_016871592.1:p.Pro595Ser
XM_017016104.2:c.1564C>T XP_016871593.1:p.Pro522Ser
NM_001134363.3:c.1948C>T MANE Select NP_001127835.2:p.Pro650Ser