Canonical Allele Identifier: CA5688512
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs762597597

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781078G>A , CM000672.2:g.110781078G>A GRCh38
NC_000010.10:g.112540836G>A , CM000672.1:g.112540836G>A GRCh37
NC_000010.9:g.112530826G>A NCBI36
NG_021177.1:g.141682G>A , LRG_382:g.141682G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.469G>A MANE Select ENSP00000358532.3:p.Ala157Thr
ENST00000369519.3:c.469G>A ENSP00000358532.3:p.Ala157Thr
NM_001134363.2:c.469G>A NP_001127835.2:p.Ala157Thr
XM_011539697.1:c.85G>A XP_011537999.1:p.Ala29Thr
XM_017016103.2:c.304G>A XP_016871592.1:p.Ala102Thr
XM_017016104.2:c.85G>A XP_016871593.1:p.Ala29Thr
NM_001134363.3:c.469G>A MANE Select NP_001127835.2:p.Ala157Thr