Canonical Allele Identifier: CA378372280
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812556A>C , CM000672.2:g.110812556A>C GRCh38
NC_000010.10:g.112572314A>C , CM000672.1:g.112572314A>C GRCh37
NC_000010.9:g.112562304A>C NCBI36
NG_021177.1:g.173160A>C , LRG_382:g.173160A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2159A>C MANE Select ENSP00000358532.3:p.Lys720Thr
ENST00000369519.3:c.2159A>C ENSP00000358532.3:p.Lys720Thr
NM_001134363.2:c.2159A>C NP_001127835.2:p.Lys720Thr
XM_011539697.1:c.1775A>C XP_011537999.1:p.Lys592Thr
XM_017016103.2:c.1994A>C XP_016871592.1:p.Lys665Thr
XM_017016104.2:c.1775A>C XP_016871593.1:p.Lys592Thr
NM_001134363.3:c.2159A>C MANE Select NP_001127835.2:p.Lys720Thr