Canonical Allele Identifier: CA378371037
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784768
ClinVar RCV Id: RCV002419797

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812428G>T , CM000672.2:g.110812428G>T GRCh38
NC_000010.10:g.112572186G>T , CM000672.1:g.112572186G>T GRCh37
NC_000010.9:g.112562176G>T NCBI36
NG_021177.1:g.173032G>T , LRG_382:g.173032G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2031G>T MANE Select ENSP00000358532.3:p.Glu677Asp
ENST00000369519.3:c.2031G>T ENSP00000358532.3:p.Glu677Asp
NM_001134363.2:c.2031G>T NP_001127835.2:p.Glu677Asp
XM_011539697.1:c.1647G>T XP_011537999.1:p.Glu549Asp
XM_017016103.2:c.1866G>T XP_016871592.1:p.Glu622Asp
XM_017016104.2:c.1647G>T XP_016871593.1:p.Glu549Asp
NM_001134363.3:c.2031G>T MANE Select NP_001127835.2:p.Glu677Asp