Canonical Allele Identifier: CA378380529
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781075G>T , CM000672.2:g.110781075G>T GRCh38
NC_000010.10:g.112540833G>T , CM000672.1:g.112540833G>T GRCh37
NC_000010.9:g.112530823G>T NCBI36
NG_021177.1:g.141679G>T , LRG_382:g.141679G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.466G>T MANE Select ENSP00000358532.3:p.Ala156Ser
ENST00000369519.3:c.466G>T ENSP00000358532.3:p.Ala156Ser
NM_001134363.2:c.466G>T NP_001127835.2:p.Ala156Ser
XM_011539697.1:c.82G>T XP_011537999.1:p.Ala28Ser
XM_017016103.2:c.301G>T XP_016871592.1:p.Ala101Ser
XM_017016104.2:c.82G>T XP_016871593.1:p.Ala28Ser
NM_001134363.3:c.466G>T MANE Select NP_001127835.2:p.Ala156Ser