Canonical Allele Identifier: CA378380583
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233217
ClinVar RCV Id: RCV004525806
MyVariant Identifiers: chr10:g.112540839G>A (hg19) chr10:g.110781081G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781081G>A , CM000672.2:g.110781081G>A GRCh38
NC_000010.10:g.112540839G>A , CM000672.1:g.112540839G>A GRCh37
NC_000010.9:g.112530829G>A NCBI36
NG_021177.1:g.141685G>A , LRG_382:g.141685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.472G>A MANE Select ENSP00000358532.3:p.Ala158Thr
ENST00000369519.3:c.472G>A ENSP00000358532.3:p.Ala158Thr
NM_001134363.2:c.472G>A NP_001127835.2:p.Ala158Thr
XM_011539697.1:c.88G>A XP_011537999.1:p.Ala30Thr
XM_017016103.2:c.307G>A XP_016871592.1:p.Ala103Thr
XM_017016104.2:c.88G>A XP_016871593.1:p.Ala30Thr
NM_001134363.3:c.472G>A MANE Select NP_001127835.2:p.Ala158Thr
Search 100 bp 5'
Search 100 bp 3'