Canonical Allele Identifier: CA213224300
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017993
ClinVar RCV Id: RCV001317231
dbSNP Id: rs999008497
gnomAD v2: 10-112572537-A-C
gnomAD v3: 10-110812779-A-C
gnomAD v4: 10-110812779-A-C
MyVariant Identifiers: chr10:g.112572537A>C (hg19) chr10:g.110812779A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812779A>C , CM000672.2:g.110812779A>C GRCh38
NC_000010.10:g.112572537A>C , CM000672.1:g.112572537A>C GRCh37
NC_000010.9:g.112562527A>C NCBI36
NG_021177.1:g.173383A>C , LRG_382:g.173383A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.2382A>C MANE Select ENSP00000358532.3:p.Arg794Ser
ENST00000369519.3:c.2382A>C ENSP00000358532.3:p.Arg794Ser
NM_001134363.2:c.2382A>C NP_001127835.2:p.Arg794Ser
XM_011539697.1:c.1998A>C XP_011537999.1:p.Arg666Ser
XM_017016103.2:c.2217A>C XP_016871592.1:p.Arg739Ser
XM_017016104.2:c.1998A>C XP_016871593.1:p.Arg666Ser
NM_001134363.3:c.2382A>C MANE Select NP_001127835.2:p.Arg794Ser
Search 100 bp 5'
Search 100 bp 3'