Canonical Allele Identifier: CA378380593
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112540840C>A (hg19) chr10:g.110781082C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781082C>A , CM000672.2:g.110781082C>A GRCh38
NC_000010.10:g.112540840C>A , CM000672.1:g.112540840C>A GRCh37
NC_000010.9:g.112530830C>A NCBI36
NG_021177.1:g.141686C>A , LRG_382:g.141686C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.473C>A MANE Select ENSP00000358532.3:p.Ala158Asp
ENST00000369519.3:c.473C>A ENSP00000358532.3:p.Ala158Asp
NM_001134363.2:c.473C>A NP_001127835.2:p.Ala158Asp
XM_011539697.1:c.89C>A XP_011537999.1:p.Ala30Asp
XM_017016103.2:c.308C>A XP_016871592.1:p.Ala103Asp
XM_017016104.2:c.89C>A XP_016871593.1:p.Ala30Asp
NM_001134363.3:c.473C>A MANE Select NP_001127835.2:p.Ala158Asp
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