Canonical Allele Identifier: CA378370411
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812330C>T , CM000672.2:g.110812330C>T GRCh38
NC_000010.10:g.112572088C>T , CM000672.1:g.112572088C>T GRCh37
NC_000010.9:g.112562078C>T NCBI36
NG_021177.1:g.172934C>T , LRG_382:g.172934C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1933C>T MANE Select ENSP00000358532.3:p.Pro645Ser
ENST00000369519.3:c.1933C>T ENSP00000358532.3:p.Pro645Ser
NM_001134363.2:c.1933C>T NP_001127835.2:p.Pro645Ser
XM_011539697.1:c.1549C>T XP_011537999.1:p.Pro517Ser
XM_017016103.2:c.1768C>T XP_016871592.1:p.Pro590Ser
XM_017016104.2:c.1549C>T XP_016871593.1:p.Pro517Ser
NM_001134363.3:c.1933C>T MANE Select NP_001127835.2:p.Pro645Ser