Canonical Allele Identifier: CA2610892486
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs2135099612
gnomAD v4: 10-110810325-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110810325C>G , CM000672.2:g.110810325C>G GRCh38
NC_000010.10:g.112570083C>G , CM000672.1:g.112570083C>G GRCh37
NC_000010.9:g.112560073C>G NCBI36
NG_021177.1:g.170929C>G , LRG_382:g.170929C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1801-58C>G MANE Select ENSP00000358532.3:n.1801-58C>G
ENST00000369519.3:c.1801-58C>G ENSP00000358532.3:n.1801-58C>G
NM_001134363.2:c.1801-58C>G NP_001127835.2:n.1801-58C>G
XM_011539697.1:c.1417-58C>G XP_011537999.1:n.1417-58C>G
XM_017016103.2:c.1636-58C>G XP_016871592.1:n.1636-58C>G
XM_017016104.2:c.1417-58C>G XP_016871593.1:n.1417-58C>G
NM_001134363.3:c.1801-58C>G MANE Select NP_001127835.2:n.1801-58C>G
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