Canonical Allele Identifier: CA348972

Gene: MED25

Linked Data

• ClinVar Variation Id: 221177
• ClinVar RCV Id: RCV000204774 ; RCV000625156 ; RCV001001534 ; RCV001173676 ; RCV001668371 ; RCV001699237
• dbSNP Id: rs2017698
• ExAC: 19:50338236 C / T
• gnomAD v2: 19-50338236-C-T
• gnomAD v3: 19-49834979-C-T
• gnomAD v4: 19-49834979-C-T
• MyVariant Identifiers: chr19:g.50338236C>T (hg19) ; chr19:g.49834979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49834979C>T , CM000681.2:g.49834979C>T	GRCh38
NC_000019.9:g.50338236C>T , CM000681.1:g.50338236C>T	GRCh37
NC_000019.8:g.55030048C>T	NCBI36
NG_017091.1:g.21701C>T , LRG_368:g.21701C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593767.3:c.1483-7C>T	ENSP00000470692.3:n.1483-7C>T
ENST00000312865.10:c.1483-7C>T MANE Select	ENSP00000326767.5:n.1483-7C>T
ENST00000538643.5:c.844-7C>T	ENSP00000437496.1:n.844-7C>T
ENST00000594998.1:n.2096C>T
ENST00000595185.5:c.689-1912C>T	ENSP00000470027.1:n.689-1912C>T
ENST00000612791.4:c.762-1860C>T	ENSP00000479851.1:n.762-1860C>T
ENST00000612854.4:c.451-1274C>T	ENSP00000482155.1:n.451-1274C>T
ENST00000617849.4:c.688-7C>T	ENSP00000484882.1:n.688-7C>T
ENST00000618715.4:c.688-7C>T	ENSP00000480731.1:n.688-7C>T
ENST00000620467.4:c.973-1304C>T	ENSP00000482659.1:n.973-1304C>T
ENST00000622046.1:c.-58C>T	ENSP00000483584.1:n.-58C>T
ENST00000622402.4:c.146-848C>T	ENSP00000478074.1:n.146-848C>T
NM_030973.3:c.1483-7C>T , LRG_368t1:c.1483-7C>T	NP_112235.2:n.1483-7C>T
XM_011527353.1:c.1483-7C>T	XP_011525655.1:n.1483-7C>T
NM_001378355.1:c.1483-7C>T	NP_001365284.1:n.1483-7C>T
NM_030973.4:c.1483-7C>T MANE Select	NP_112235.2:n.1483-7C>T