Canonical Allele Identifier: CA378380610
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2319624
ClinVar RCV Id: RCV002905740
dbSNP Id: rs1474684710
gnomAD v2: 10-112540842-A-G
gnomAD v4: 10-110781084-A-G
MyVariant Identifiers: chr10:g.112540842A>G (hg19) chr10:g.110781084A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781084A>G , CM000672.2:g.110781084A>G GRCh38
NC_000010.10:g.112540842A>G , CM000672.1:g.112540842A>G GRCh37
NC_000010.9:g.112530832A>G NCBI36
NG_021177.1:g.141688A>G , LRG_382:g.141688A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.475A>G MANE Select ENSP00000358532.3:p.Ile159Val
ENST00000369519.3:c.475A>G ENSP00000358532.3:p.Ile159Val
NM_001134363.2:c.475A>G NP_001127835.2:p.Ile159Val
XM_011539697.1:c.91A>G XP_011537999.1:p.Ile31Val
XM_017016103.2:c.310A>G XP_016871592.1:p.Ile104Val
XM_017016104.2:c.91A>G XP_016871593.1:p.Ile31Val
NM_001134363.3:c.475A>G MANE Select NP_001127835.2:p.Ile159Val
Search 100 bp 5'
Search 100 bp 3'