Canonical Allele Identifier: CA378370298
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812300T>A , CM000672.2:g.110812300T>A GRCh38
NC_000010.10:g.112572058T>A , CM000672.1:g.112572058T>A GRCh37
NC_000010.9:g.112562048T>A NCBI36
NG_021177.1:g.172904T>A , LRG_382:g.172904T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1903T>A MANE Select ENSP00000358532.3:p.Ser635Thr
ENST00000369519.3:c.1903T>A ENSP00000358532.3:p.Ser635Thr
NM_001134363.2:c.1903T>A NP_001127835.2:p.Ser635Thr
XM_011539697.1:c.1519T>A XP_011537999.1:p.Ser507Thr
XM_017016103.2:c.1738T>A XP_016871592.1:p.Ser580Thr
XM_017016104.2:c.1519T>A XP_016871593.1:p.Ser507Thr
NM_001134363.3:c.1903T>A MANE Select NP_001127835.2:p.Ser635Thr