Canonical Allele Identifier: CA378371142
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812445G>A , CM000672.2:g.110812445G>A GRCh38
NC_000010.10:g.112572203G>A , CM000672.1:g.112572203G>A GRCh37
NC_000010.9:g.112562193G>A NCBI36
NG_021177.1:g.173049G>A , LRG_382:g.173049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2048G>A MANE Select ENSP00000358532.3:p.Arg683Lys
ENST00000369519.3:c.2048G>A ENSP00000358532.3:p.Arg683Lys
NM_001134363.2:c.2048G>A NP_001127835.2:p.Arg683Lys
XM_011539697.1:c.1664G>A XP_011537999.1:p.Arg555Lys
XM_017016103.2:c.1883G>A XP_016871592.1:p.Arg628Lys
XM_017016104.2:c.1664G>A XP_016871593.1:p.Arg555Lys
NM_001134363.3:c.2048G>A MANE Select NP_001127835.2:p.Arg683Lys