Canonical Allele Identifier: CA378379222
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780865C>A , CM000672.2:g.110780865C>A GRCh38
NC_000010.10:g.112540623C>A , CM000672.1:g.112540623C>A GRCh37
NC_000010.9:g.112530613C>A NCBI36
NG_021177.1:g.141469C>A , LRG_382:g.141469C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.256C>A MANE Select ENSP00000358532.3:p.Pro86Thr
ENST00000369519.3:c.256C>A ENSP00000358532.3:p.Pro86Thr
NM_001134363.2:c.256C>A NP_001127835.2:p.Pro86Thr
XM_011539697.1:c.-129C>A XP_011537999.1:n.-129C>A
XM_017016103.2:c.91C>A XP_016871592.1:p.Pro31Thr
XM_017016104.2:c.-129C>A XP_016871593.1:n.-129C>A
NM_001134363.3:c.256C>A MANE Select NP_001127835.2:p.Pro86Thr