Canonical Allele Identifier: CA378384703
Community Standard Title: NM_001134363.3(RBM20):c.934C>A (p.Leu312Met)
Gene: RBM20 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781543C>A , CM000672.2:g.110781543C>A GRCh38
NC_000010.10:g.112541301C>A , CM000672.1:g.112541301C>A GRCh37
NC_000010.9:g.112531291C>A NCBI36
NG_021177.1:g.142147C>A , LRG_382:g.142147C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001134363.3:c.934C>A MANE Select NP_001127835.2:p.Leu312Met
ENST00000369519.4:c.934C>A MANE Select ENSP00000358532.3:p.Leu312Met
NM_001134363.2:c.934C>A NP_001127835.2:p.Leu312Met
ENST00000369519.3:c.934C>A ENSP00000358532.3:p.Leu312Met
XM_011539697.1:c.550C>A XP_011537999.1:p.Leu184Met
XM_017016103.2:c.769C>A XP_016871592.1:p.Leu257Met
XM_017016104.2:c.550C>A XP_016871593.1:p.Leu184Met
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