Canonical Allele Identifier: CA378527678
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644558C>T , CM000672.2:g.110644558C>T GRCh38
NC_000010.10:g.112404316C>T , CM000672.1:g.112404316C>T GRCh37
NC_000010.9:g.112394306C>T NCBI36
NG_021177.1:g.5162C>T , LRG_382:g.5162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.104C>T MANE Select ENSP00000358532.3:p.Pro35Leu
ENST00000369519.3:c.104C>T ENSP00000358532.3:p.Pro35Leu
NM_001134363.2:c.104C>T NP_001127835.2:p.Pro35Leu
XM_017016103.2:c.26+1118C>T XP_016871592.1:n.26+1118C>T
NM_001134363.3:c.104C>T MANE Select NP_001127835.2:p.Pro35Leu