Canonical Allele Identifier: CA378379257
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 834395
ClinVar RCV Id: RCV001035071
dbSNP Id: rs1844329109
gnomAD v4: 10-110780871-A-G
MyVariant Identifiers: chr10:g.112540629A>G (hg19) chr10:g.110780871A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780871A>G , CM000672.2:g.110780871A>G GRCh38
NC_000010.10:g.112540629A>G , CM000672.1:g.112540629A>G GRCh37
NC_000010.9:g.112530619A>G NCBI36
NG_021177.1:g.141475A>G , LRG_382:g.141475A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.262A>G MANE Select ENSP00000358532.3:p.Ser88Gly
ENST00000369519.3:c.262A>G ENSP00000358532.3:p.Ser88Gly
NM_001134363.2:c.262A>G NP_001127835.2:p.Ser88Gly
XM_011539697.1:c.-123A>G XP_011537999.1:n.-123A>G
XM_017016103.2:c.97A>G XP_016871592.1:p.Ser33Gly
XM_017016104.2:c.-123A>G XP_016871593.1:n.-123A>G
NM_001134363.3:c.262A>G MANE Select NP_001127835.2:p.Ser88Gly
Search 100 bp 5'
Search 100 bp 3'