Canonical Allele Identifier: CA471464149
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1861836421
gnomAD v4: 10-110644463-G-A
MyVariant Identifiers: chr10:g.112404221G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644463G>A , CM000672.2:g.110644463G>A GRCh38
NC_000010.10:g.112404221G>A , CM000672.1:g.112404221G>A GRCh37
NC_000010.9:g.112394211G>A NCBI36
NG_021177.1:g.5067G>A , LRG_382:g.5067G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.9G>A MANE Select ENSP00000358532.3:p.Leu3=
ENST00000369519.3:c.9G>A ENSP00000358532.3:p.Leu3=
NM_001134363.2:c.9G>A NP_001127835.2:p.Leu3=
XM_017016103.2:c.26+1023G>A XP_016871592.1:n.26+1023G>A
NM_001134363.3:c.9G>A MANE Select NP_001127835.2:p.Leu3=
Search 100 bp 5'
Search 100 bp 3'