Canonical Allele Identifier: CA378371329
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402872
ClinVar RCV Id: RCV001925228 RCV003167075
dbSNP Id: rs1293517489
gnomAD v3: 10-110812469-C-T
gnomAD v4: 10-110812469-C-T
MyVariant Identifiers: chr10:g.112572227C>T (hg19) chr10:g.110812469C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812469C>T , CM000672.2:g.110812469C>T GRCh38
NC_000010.10:g.112572227C>T , CM000672.1:g.112572227C>T GRCh37
NC_000010.9:g.112562217C>T NCBI36
NG_021177.1:g.173073C>T , LRG_382:g.173073C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2072C>T MANE Select ENSP00000358532.3:p.Ala691Val
ENST00000369519.3:c.2072C>T ENSP00000358532.3:p.Ala691Val
NM_001134363.2:c.2072C>T NP_001127835.2:p.Ala691Val
XM_011539697.1:c.1688C>T XP_011537999.1:p.Ala563Val
XM_017016103.2:c.1907C>T XP_016871592.1:p.Ala636Val
XM_017016104.2:c.1688C>T XP_016871593.1:p.Ala563Val
NM_001134363.3:c.2072C>T MANE Select NP_001127835.2:p.Ala691Val
Search 100 bp 5'
Search 100 bp 3'