Canonical Allele Identifier: CA378370300
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 870084
ClinVar RCV Id: RCV002555933
dbSNP Id: rs1114167331
MyVariant Identifiers: chr10:g.112572059C>A (hg19) chr10:g.110812301C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812301C>A , CM000672.2:g.110812301C>A GRCh38
NC_000010.10:g.112572059C>A , CM000672.1:g.112572059C>A GRCh37
NC_000010.9:g.112562049C>A NCBI36
NG_021177.1:g.172905C>A , LRG_382:g.172905C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.1904C>A MANE Select ENSP00000358532.3:p.Ser635Tyr
ENST00000369519.3:c.1904C>A ENSP00000358532.3:p.Ser635Tyr
NM_001134363.2:c.1904C>A NP_001127835.2:p.Ser635Tyr
XM_011539697.1:c.1520C>A XP_011537999.1:p.Ser507Tyr
XM_017016103.2:c.1739C>A XP_016871592.1:p.Ser580Tyr
XM_017016104.2:c.1520C>A XP_016871593.1:p.Ser507Tyr
NM_001134363.3:c.1904C>A MANE Select NP_001127835.2:p.Ser635Tyr
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