Canonical Allele Identifier: CA9585063

Gene: MED25

Linked Data

• ClinVar Variation Id: 241615
• ClinVar RCV Id: RCV000226407 ; RCV001332638
• dbSNP Id: rs775122561
• ExAC: 19:50333852 C / T
• gnomAD v2: 19-50333852-C-T
• gnomAD v3: 19-49830595-C-T
• gnomAD v4: 19-49830595-C-T
• MyVariant Identifiers: chr19:g.50333852C>T (hg19) ; chr19:g.49830595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49830595C>T , CM000681.2:g.49830595C>T	GRCh38
NC_000019.9:g.50333852C>T , CM000681.1:g.50333852C>T	GRCh37
NC_000019.8:g.55025664C>T	NCBI36
NG_017091.1:g.17317C>T , LRG_368:g.17317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.904C>T	ENSP00000470692.3:p.Arg302Cys
ENST00000312865.10:c.904C>T MANE Select	ENSP00000326767.5:p.Arg302Cys
ENST00000538643.5:c.265C>T	ENSP00000437496.1:p.Arg89Cys
ENST00000595185.5:c.688+647C>T	ENSP00000470027.1:n.688+647C>T
ENST00000612791.4:c.761+433C>T	ENSP00000479851.1:n.761+433C>T
ENST00000612854.4:c.450+1580C>T	ENSP00000482155.1:n.450+1580C>T
ENST00000617849.4:c.158-144C>T	ENSP00000484882.1:n.158-144C>T
ENST00000618715.4:c.158-143C>T	ENSP00000480731.1:n.158-143C>T
ENST00000620467.4:c.904C>T	ENSP00000482659.1:p.Arg302Cys
ENST00000622402.4:c.146-5232C>T	ENSP00000478074.1:n.146-5232C>T
NM_030973.3:c.904C>T , LRG_368t1:c.904C>T	NP_112235.2:p.Arg302Cys
XM_011527353.1:c.904C>T	XP_011525655.1:p.Arg302Cys
NM_001378355.1:c.904C>T	NP_001365284.1:p.Arg302Cys
NM_030973.4:c.904C>T MANE Select	NP_112235.2:p.Arg302Cys