Canonical Allele Identifier: CA378373519
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063358
ClinVar RCV Id: RCV001373184
dbSNP Id: rs1359372013
gnomAD v2: 10-112572506-G-T
gnomAD v3: 10-110812748-G-T
gnomAD v4: 10-110812748-G-T
MyVariant Identifiers: chr10:g.112572506G>T (hg19) chr10:g.110812748G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812748G>T , CM000672.2:g.110812748G>T GRCh38
NC_000010.10:g.112572506G>T , CM000672.1:g.112572506G>T GRCh37
NC_000010.9:g.112562496G>T NCBI36
NG_021177.1:g.173352G>T , LRG_382:g.173352G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2351G>T MANE Select ENSP00000358532.3:p.Arg784Met
ENST00000369519.3:c.2351G>T ENSP00000358532.3:p.Arg784Met
NM_001134363.2:c.2351G>T NP_001127835.2:p.Arg784Met
XM_011539697.1:c.1967G>T XP_011537999.1:p.Arg656Met
XM_017016103.2:c.2186G>T XP_016871592.1:p.Arg729Met
XM_017016104.2:c.1967G>T XP_016871593.1:p.Arg656Met
NM_001134363.3:c.2351G>T MANE Select NP_001127835.2:p.Arg784Met
Search 100 bp 5'
Search 100 bp 3'