Canonical Allele Identifier: CA378370431
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112572093G>C (hg19) chr10:g.110812335G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812335G>C , CM000672.2:g.110812335G>C GRCh38
NC_000010.10:g.112572093G>C , CM000672.1:g.112572093G>C GRCh37
NC_000010.9:g.112562083G>C NCBI36
NG_021177.1:g.172939G>C , LRG_382:g.172939G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1938G>C MANE Select ENSP00000358532.3:p.Arg646Ser
ENST00000369519.3:c.1938G>C ENSP00000358532.3:p.Arg646Ser
NM_001134363.2:c.1938G>C NP_001127835.2:p.Arg646Ser
XM_011539697.1:c.1554G>C XP_011537999.1:p.Arg518Ser
XM_017016103.2:c.1773G>C XP_016871592.1:p.Arg591Ser
XM_017016104.2:c.1554G>C XP_016871593.1:p.Arg518Ser
NM_001134363.3:c.1938G>C MANE Select NP_001127835.2:p.Arg646Ser
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