Canonical Allele Identifier: CA5688663
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 418454
ClinVar RCV Id: RCV000481759 RCV000515711 RCV000620460 RCV001798854
dbSNP Id: rs372048968
ExAC: 10:112572197 A / G
gnomAD v2: 10-112572197-A-G
gnomAD v3: 10-110812439-A-G
gnomAD v4: 10-110812439-A-G
MyVariant Identifiers: chr10:g.112572197A>G (hg19) chr10:g.110812439A>G (hg38)
PubMed: PMID:26272908
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812439A>G , CM000672.2:g.110812439A>G GRCh38
NC_000010.10:g.112572197A>G , CM000672.1:g.112572197A>G GRCh37
NC_000010.9:g.112562187A>G NCBI36
NG_021177.1:g.173043A>G , LRG_382:g.173043A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2042A>G MANE Select ENSP00000358532.3:p.Tyr681Cys
ENST00000369519.3:c.2042A>G ENSP00000358532.3:p.Tyr681Cys
NM_001134363.2:c.2042A>G NP_001127835.2:p.Tyr681Cys
XM_011539697.1:c.1658A>G XP_011537999.1:p.Tyr553Cys
XM_017016103.2:c.1877A>G XP_016871592.1:p.Tyr626Cys
XM_017016104.2:c.1658A>G XP_016871593.1:p.Tyr553Cys
NM_001134363.3:c.2042A>G MANE Select NP_001127835.2:p.Tyr681Cys
Search 100 bp 5'
Search 100 bp 3'