Canonical Allele Identifier: CA378370894
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 948749
dbSNP Id: rs1204905333

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812408A>G , CM000672.2:g.110812408A>G GRCh38
NC_000010.10:g.112572166A>G , CM000672.1:g.112572166A>G GRCh37
NC_000010.9:g.112562156A>G NCBI36
NG_021177.1:g.173012A>G , LRG_382:g.173012A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2011A>G MANE Select ENSP00000358532.3:p.Asn671Asp
ENST00000369519.3:c.2011A>G ENSP00000358532.3:p.Asn671Asp
NM_001134363.2:c.2011A>G NP_001127835.2:p.Asn671Asp
XM_011539697.1:c.1627A>G XP_011537999.1:p.Asn543Asp
XM_017016103.2:c.1846A>G XP_016871592.1:p.Asn616Asp
XM_017016104.2:c.1627A>G XP_016871593.1:p.Asn543Asp
NM_001134363.3:c.2011A>G MANE Select NP_001127835.2:p.Asn671Asp