Canonical Allele Identifier: CA471368083

Gene: RBM20

Linked Data

• ClinVar Variation Id: 1960146
• ClinVar RCV Id: RCV002715340
• MyVariant Identifiers: chr10:g.112572114C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812356C>T , CM000672.2:g.110812356C>T	GRCh38
NC_000010.10:g.112572114C>T , CM000672.1:g.112572114C>T	GRCh37
NC_000010.9:g.112562104C>T	NCBI36
NG_021177.1:g.172960C>T , LRG_382:g.172960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1959C>T MANE Select	ENSP00000358532.3:p.Thr653=
ENST00000369519.3:c.1959C>T	ENSP00000358532.3:p.Thr653=
NM_001134363.2:c.1959C>T	NP_001127835.2:p.Thr653=
XM_011539697.1:c.1575C>T	XP_011537999.1:p.Thr525=
XM_017016103.2:c.1794C>T	XP_016871592.1:p.Thr598=
XM_017016104.2:c.1575C>T	XP_016871593.1:p.Thr525=
NM_001134363.3:c.1959C>T MANE Select	NP_001127835.2:p.Thr653=