Canonical Allele Identifier: CA471506949
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 3012630
ClinVar RCV Id: RCV003877741
MyVariant Identifiers: chr10:g.112572255G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812497G>A , CM000672.2:g.110812497G>A GRCh38
NC_000010.10:g.112572255G>A , CM000672.1:g.112572255G>A GRCh37
NC_000010.9:g.112562245G>A NCBI36
NG_021177.1:g.173101G>A , LRG_382:g.173101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2100G>A MANE Select ENSP00000358532.3:p.Lys700=
ENST00000369519.3:c.2100G>A ENSP00000358532.3:p.Lys700=
NM_001134363.2:c.2100G>A NP_001127835.2:p.Lys700=
XM_011539697.1:c.1716G>A XP_011537999.1:p.Lys572=
XM_017016103.2:c.1935G>A XP_016871592.1:p.Lys645=
XM_017016104.2:c.1716G>A XP_016871593.1:p.Lys572=
NM_001134363.3:c.2100G>A MANE Select NP_001127835.2:p.Lys700=
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