Canonical Allele Identifier: CA378527247
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110644462-T-C
MyVariant Identifiers: chr10:g.112404220T>C (hg19) chr10:g.110644462T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644462T>C , CM000672.2:g.110644462T>C GRCh38
NC_000010.10:g.112404220T>C , CM000672.1:g.112404220T>C GRCh37
NC_000010.9:g.112394210T>C NCBI36
NG_021177.1:g.5066T>C , LRG_382:g.5066T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.8T>C MANE Select ENSP00000358532.3:p.Leu3Pro
ENST00000369519.3:c.8T>C ENSP00000358532.3:p.Leu3Pro
NM_001134363.2:c.8T>C NP_001127835.2:p.Leu3Pro
XM_017016103.2:c.26+1022T>C XP_016871592.1:n.26+1022T>C
NM_001134363.3:c.8T>C MANE Select NP_001127835.2:p.Leu3Pro
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