Canonical Allele Identifier: CA378380518
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781074T>G , CM000672.2:g.110781074T>G GRCh38
NC_000010.10:g.112540832T>G , CM000672.1:g.112540832T>G GRCh37
NC_000010.9:g.112530822T>G NCBI36
NG_021177.1:g.141678T>G , LRG_382:g.141678T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.465T>G MANE Select ENSP00000358532.3:p.His155Gln
ENST00000369519.3:c.465T>G ENSP00000358532.3:p.His155Gln
NM_001134363.2:c.465T>G NP_001127835.2:p.His155Gln
XM_011539697.1:c.81T>G XP_011537999.1:p.His27Gln
XM_017016103.2:c.300T>G XP_016871592.1:p.His100Gln
XM_017016104.2:c.81T>G XP_016871593.1:p.His27Gln
NM_001134363.3:c.465T>G MANE Select NP_001127835.2:p.His155Gln