Canonical Allele Identifier: CA378527231
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644458G>C , CM000672.2:g.110644458G>C GRCh38
NC_000010.10:g.112404216G>C , CM000672.1:g.112404216G>C GRCh37
NC_000010.9:g.112394206G>C NCBI36
NG_021177.1:g.5062G>C , LRG_382:g.5062G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.4G>C MANE Select ENSP00000358532.3:p.Val2Leu
ENST00000369519.3:c.4G>C ENSP00000358532.3:p.Val2Leu
NM_001134363.2:c.4G>C NP_001127835.2:p.Val2Leu
XM_017016103.2:c.26+1018G>C XP_016871592.1:n.26+1018G>C
NM_001134363.3:c.4G>C MANE Select NP_001127835.2:p.Val2Leu