Canonical Allele Identifier: CA378380416
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781063G>A , CM000672.2:g.110781063G>A GRCh38
NC_000010.10:g.112540821G>A , CM000672.1:g.112540821G>A GRCh37
NC_000010.9:g.112530811G>A NCBI36
NG_021177.1:g.141667G>A , LRG_382:g.141667G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.454G>A MANE Select ENSP00000358532.3:p.Val152Ile
ENST00000369519.3:c.454G>A ENSP00000358532.3:p.Val152Ile
NM_001134363.2:c.454G>A NP_001127835.2:p.Val152Ile
XM_011539697.1:c.70G>A XP_011537999.1:p.Val24Ile
XM_017016103.2:c.289G>A XP_016871592.1:p.Val97Ile
XM_017016104.2:c.70G>A XP_016871593.1:p.Val24Ile
NM_001134363.3:c.454G>A MANE Select NP_001127835.2:p.Val152Ile