Canonical Allele Identifier: CA378527240
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110644461-C-A
MyVariant Identifiers: chr10:g.112404219C>A (hg19) chr10:g.110644461C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644461C>A , CM000672.2:g.110644461C>A GRCh38
NC_000010.10:g.112404219C>A , CM000672.1:g.112404219C>A GRCh37
NC_000010.9:g.112394209C>A NCBI36
NG_021177.1:g.5065C>A , LRG_382:g.5065C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.7C>A MANE Select ENSP00000358532.3:p.Leu3Met
ENST00000369519.3:c.7C>A ENSP00000358532.3:p.Leu3Met
NM_001134363.2:c.7C>A NP_001127835.2:p.Leu3Met
XM_017016103.2:c.26+1021C>A XP_016871592.1:n.26+1021C>A
NM_001134363.3:c.7C>A MANE Select NP_001127835.2:p.Leu3Met
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