Canonical Allele Identifier: CA133270

Gene: RBM20

Linked Data

• ClinVar Variation Id: 43972
• ClinVar RCV Id: RCV000036944 ; RCV001711117 ; RCV000473670 ; RCV001798111 ; RCV002390147
• dbSNP Id: rs397516594
• ExAC: 10:112544578 C / T
• gnomAD v2: 10-112544578-C-T
• gnomAD v3: 10-110784820-C-T
• gnomAD v4: 10-110784820-C-T
• MyVariant Identifiers: chr10:g.112544578C>T (hg19) ; chr10:g.110784820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110784820C>T , CM000672.2:g.110784820C>T	GRCh38
NC_000010.10:g.112544578C>T , CM000672.1:g.112544578C>T	GRCh37
NC_000010.9:g.112534568C>T	NCBI36
NG_021177.1:g.145424C>T , LRG_382:g.145424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1458C>T MANE Select	ENSP00000358532.3:p.Tyr486=
ENST00000369519.3:c.1458C>T	ENSP00000358532.3:p.Tyr486=
NM_001134363.2:c.1458C>T	NP_001127835.2:p.Tyr486=
XM_011539697.1:c.1074C>T	XP_011537999.1:p.Tyr358=
XM_017016103.2:c.1293C>T	XP_016871592.1:p.Tyr431=
XM_017016104.2:c.1074C>T	XP_016871593.1:p.Tyr358=
NM_001134363.3:c.1458C>T MANE Select	NP_001127835.2:p.Tyr486=