Canonical Allele Identifier: CA378374099

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812843-G-T
• MyVariant Identifiers: chr10:g.112572601G>T (hg19) ; chr10:g.110812843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812843G>T , CM000672.2:g.110812843G>T	GRCh38
NC_000010.10:g.112572601G>T , CM000672.1:g.112572601G>T	GRCh37
NC_000010.9:g.112562591G>T	NCBI36
NG_021177.1:g.173447G>T , LRG_382:g.173447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2446G>T MANE Select	ENSP00000358532.3:p.Glu816Ter
ENST00000369519.3:c.2446G>T	ENSP00000358532.3:p.Glu816Ter
NM_001134363.2:c.2446G>T	NP_001127835.2:p.Glu816Ter
XM_011539697.1:c.2062G>T	XP_011537999.1:p.Glu688Ter
XM_017016103.2:c.2281G>T	XP_016871592.1:p.Glu761Ter
XM_017016104.2:c.2062G>T	XP_016871593.1:p.Glu688Ter
NM_001134363.3:c.2446G>T MANE Select	NP_001127835.2:p.Glu816Ter