Canonical Allele Identifier: CA378380515
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 939957
ClinVar RCV Id: RCV001209444
dbSNP Id: rs1844333730

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781073A>T , CM000672.2:g.110781073A>T GRCh38
NC_000010.10:g.112540831A>T , CM000672.1:g.112540831A>T GRCh37
NC_000010.9:g.112530821A>T NCBI36
NG_021177.1:g.141677A>T , LRG_382:g.141677A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.464A>T MANE Select ENSP00000358532.3:p.His155Leu
ENST00000369519.3:c.464A>T ENSP00000358532.3:p.His155Leu
NM_001134363.2:c.464A>T NP_001127835.2:p.His155Leu
XM_011539697.1:c.80A>T XP_011537999.1:p.His27Leu
XM_017016103.2:c.299A>T XP_016871592.1:p.His100Leu
XM_017016104.2:c.80A>T XP_016871593.1:p.His27Leu
NM_001134363.3:c.464A>T MANE Select NP_001127835.2:p.His155Leu