Canonical Allele Identifier: CA378372068

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812526-A-G
• MyVariant Identifiers: chr10:g.112572284A>G (hg19) ; chr10:g.110812526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812526A>G , CM000672.2:g.110812526A>G	GRCh38
NC_000010.10:g.112572284A>G , CM000672.1:g.112572284A>G	GRCh37
NC_000010.9:g.112562274A>G	NCBI36
NG_021177.1:g.173130A>G , LRG_382:g.173130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2129A>G MANE Select	ENSP00000358532.3:p.Asp710Gly
ENST00000369519.3:c.2129A>G	ENSP00000358532.3:p.Asp710Gly
NM_001134363.2:c.2129A>G	NP_001127835.2:p.Asp710Gly
XM_011539697.1:c.1745A>G	XP_011537999.1:p.Asp582Gly
XM_017016103.2:c.1964A>G	XP_016871592.1:p.Asp655Gly
XM_017016104.2:c.1745A>G	XP_016871593.1:p.Asp582Gly
NM_001134363.3:c.2129A>G MANE Select	NP_001127835.2:p.Asp710Gly