Canonical Allele Identifier: CA378527229
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110644458-G-A
MyVariant Identifiers: chr10:g.112404216G>A (hg19) chr10:g.110644458G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644458G>A , CM000672.2:g.110644458G>A GRCh38
NC_000010.10:g.112404216G>A , CM000672.1:g.112404216G>A GRCh37
NC_000010.9:g.112394206G>A NCBI36
NG_021177.1:g.5062G>A , LRG_382:g.5062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.4G>A MANE Select ENSP00000358532.3:p.Val2Met
ENST00000369519.3:c.4G>A ENSP00000358532.3:p.Val2Met
NM_001134363.2:c.4G>A NP_001127835.2:p.Val2Met
XM_017016103.2:c.26+1018G>A XP_016871592.1:n.26+1018G>A
NM_001134363.3:c.4G>A MANE Select NP_001127835.2:p.Val2Met
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