Canonical Allele Identifier: CA378527241
Gene: RBM20 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.7C>G MANE Select ENSP00000358532.3:p.Leu3Val
ENST00000369519.3:c.7C>G ENSP00000358532.3:p.Leu3Val
NM_001134363.2:c.7C>G NP_001127835.2:p.Leu3Val
XM_017016103.2:c.26+1021C>G XP_016871592.1:n.26+1021C>G
NM_001134363.3:c.7C>G MANE Select NP_001127835.2:p.Leu3Val
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