Canonical Allele Identifier: CA378370452
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812339C>T , CM000672.2:g.110812339C>T GRCh38
NC_000010.10:g.112572097C>T , CM000672.1:g.112572097C>T GRCh37
NC_000010.9:g.112562087C>T NCBI36
NG_021177.1:g.172943C>T , LRG_382:g.172943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1942C>T MANE Select ENSP00000358532.3:p.His648Tyr
ENST00000369519.3:c.1942C>T ENSP00000358532.3:p.His648Tyr
NM_001134363.2:c.1942C>T NP_001127835.2:p.His648Tyr
XM_011539697.1:c.1558C>T XP_011537999.1:p.His520Tyr
XM_017016103.2:c.1777C>T XP_016871592.1:p.His593Tyr
XM_017016104.2:c.1558C>T XP_016871593.1:p.His520Tyr
NM_001134363.3:c.1942C>T MANE Select NP_001127835.2:p.His648Tyr