Canonical Allele Identifier: CA133393
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 44019
ClinVar RCV Id: RCV000036994
dbSNP Id: rs397516620
gnomAD v4: 10-110781074-T-C
MyVariant Identifiers: chr10:g.112540832T>C (hg19) chr10:g.110781074T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781074T>C , CM000672.2:g.110781074T>C GRCh38
NC_000010.10:g.112540832T>C , CM000672.1:g.112540832T>C GRCh37
NC_000010.9:g.112530822T>C NCBI36
NG_021177.1:g.141678T>C , LRG_382:g.141678T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.465T>C MANE Select ENSP00000358532.3:p.His155=
ENST00000369519.3:c.465T>C ENSP00000358532.3:p.His155=
NM_001134363.2:c.465T>C NP_001127835.2:p.His155=
XM_011539697.1:c.81T>C XP_011537999.1:p.His27=
XM_017016103.2:c.300T>C XP_016871592.1:p.His100=
XM_017016104.2:c.81T>C XP_016871593.1:p.His27=
NM_001134363.3:c.465T>C MANE Select NP_001127835.2:p.His155=
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