Canonical Allele Identifier: CA213903199
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 766089
ClinVar RCV Id: RCV001502401
dbSNP Id: rs376936285
gnomAD v3: 10-110644604-A-G
gnomAD v4: 10-110644604-A-G
MyVariant Identifiers: chr10:g.112404362A>G (hg19) chr10:g.110644604A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644604A>G , CM000672.2:g.110644604A>G GRCh38
NC_000010.10:g.112404362A>G , CM000672.1:g.112404362A>G GRCh37
NC_000010.9:g.112394352A>G NCBI36
NG_021177.1:g.5208A>G , LRG_382:g.5208A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.150A>G MANE Select ENSP00000358532.3:p.Pro50=
ENST00000369519.3:c.150A>G ENSP00000358532.3:p.Pro50=
NM_001134363.2:c.150A>G NP_001127835.2:p.Pro50=
XM_017016103.2:c.26+1164A>G XP_016871592.1:n.26+1164A>G
NM_001134363.3:c.150A>G MANE Select NP_001127835.2:p.Pro50=
Search 100 bp 5'
Search 100 bp 3'