Canonical Allele Identifier: CA378527471
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110644516-G-T
MyVariant Identifiers: chr10:g.112404274G>T (hg19) chr10:g.110644516G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644516G>T , CM000672.2:g.110644516G>T GRCh38
NC_000010.10:g.112404274G>T , CM000672.1:g.112404274G>T GRCh37
NC_000010.9:g.112394264G>T NCBI36
NG_021177.1:g.5120G>T , LRG_382:g.5120G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.62G>T MANE Select ENSP00000358532.3:p.Arg21Ile
ENST00000369519.3:c.62G>T ENSP00000358532.3:p.Arg21Ile
NM_001134363.2:c.62G>T NP_001127835.2:p.Arg21Ile
XM_017016103.2:c.26+1076G>T XP_016871592.1:n.26+1076G>T
NM_001134363.3:c.62G>T MANE Select NP_001127835.2:p.Arg21Ile
Search 100 bp 5'
Search 100 bp 3'