Canonical Allele Identifier: CA378372190
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812539C>G , CM000672.2:g.110812539C>G GRCh38
NC_000010.10:g.112572297C>G , CM000672.1:g.112572297C>G GRCh37
NC_000010.9:g.112562287C>G NCBI36
NG_021177.1:g.173143C>G , LRG_382:g.173143C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2142C>G MANE Select ENSP00000358532.3:p.His714Gln
ENST00000369519.3:c.2142C>G ENSP00000358532.3:p.His714Gln
NM_001134363.2:c.2142C>G NP_001127835.2:p.His714Gln
XM_011539697.1:c.1758C>G XP_011537999.1:p.His586Gln
XM_017016103.2:c.1977C>G XP_016871592.1:p.His659Gln
XM_017016104.2:c.1758C>G XP_016871593.1:p.His586Gln
NM_001134363.3:c.2142C>G MANE Select NP_001127835.2:p.His714Gln