Canonical Allele Identifier: CA378370391
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112572083T>A (hg19) chr10:g.110812325T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812325T>A , CM000672.2:g.110812325T>A GRCh38
NC_000010.10:g.112572083T>A , CM000672.1:g.112572083T>A GRCh37
NC_000010.9:g.112562073T>A NCBI36
NG_021177.1:g.172929T>A , LRG_382:g.172929T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1928T>A MANE Select ENSP00000358532.3:p.Leu643His
ENST00000369519.3:c.1928T>A ENSP00000358532.3:p.Leu643His
NM_001134363.2:c.1928T>A NP_001127835.2:p.Leu643His
XM_011539697.1:c.1544T>A XP_011537999.1:p.Leu515His
XM_017016103.2:c.1763T>A XP_016871592.1:p.Leu588His
XM_017016104.2:c.1544T>A XP_016871593.1:p.Leu515His
NM_001134363.3:c.1928T>A MANE Select NP_001127835.2:p.Leu643His
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