Canonical Allele Identifier: CA378379192
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112540617C>G (hg19) chr10:g.110780859C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780859C>G , CM000672.2:g.110780859C>G GRCh38
NC_000010.10:g.112540617C>G , CM000672.1:g.112540617C>G GRCh37
NC_000010.9:g.112530607C>G NCBI36
NG_021177.1:g.141463C>G , LRG_382:g.141463C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.250C>G MANE Select ENSP00000358532.3:p.Pro84Ala
ENST00000369519.3:c.250C>G ENSP00000358532.3:p.Pro84Ala
NM_001134363.2:c.250C>G NP_001127835.2:p.Pro84Ala
XM_011539697.1:c.-135C>G XP_011537999.1:n.-135C>G
XM_017016103.2:c.85C>G XP_016871592.1:p.Pro29Ala
XM_017016104.2:c.-135C>G XP_016871593.1:n.-135C>G
NM_001134363.3:c.250C>G MANE Select NP_001127835.2:p.Pro84Ala
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