Canonical Allele Identifier: CA378527243
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644462T>G , CM000672.2:g.110644462T>G GRCh38
NC_000010.10:g.112404220T>G , CM000672.1:g.112404220T>G GRCh37
NC_000010.9:g.112394210T>G NCBI36
NG_021177.1:g.5066T>G , LRG_382:g.5066T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.8T>G MANE Select ENSP00000358532.3:p.Leu3Arg
ENST00000369519.3:c.8T>G ENSP00000358532.3:p.Leu3Arg
NM_001134363.2:c.8T>G NP_001127835.2:p.Leu3Arg
XM_017016103.2:c.26+1022T>G XP_016871592.1:n.26+1022T>G
NM_001134363.3:c.8T>G MANE Select NP_001127835.2:p.Leu3Arg