Canonical Allele Identifier: CA378379336
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1965699
ClinVar RCV Id: RCV002711297
dbSNP Id: rs1279453812
gnomAD v2: 10-112540644-C-T
gnomAD v3: 10-110780886-C-T
gnomAD v4: 10-110780886-C-T
MyVariant Identifiers: chr10:g.112540644C>T (hg19) chr10:g.110780886C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780886C>T , CM000672.2:g.110780886C>T GRCh38
NC_000010.10:g.112540644C>T , CM000672.1:g.112540644C>T GRCh37
NC_000010.9:g.112530634C>T NCBI36
NG_021177.1:g.141490C>T , LRG_382:g.141490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.277C>T MANE Select ENSP00000358532.3:p.Gln93Ter
ENST00000369519.3:c.277C>T ENSP00000358532.3:p.Gln93Ter
NM_001134363.2:c.277C>T NP_001127835.2:p.Gln93Ter
XM_011539697.1:c.-108C>T XP_011537999.1:n.-108C>T
XM_017016103.2:c.112C>T XP_016871592.1:p.Gln38Ter
XM_017016104.2:c.-108C>T XP_016871593.1:n.-108C>T
NM_001134363.3:c.277C>T MANE Select NP_001127835.2:p.Gln93Ter
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Search 100 bp 3'