Canonical Allele Identifier: CA9585381
Community Standard Title: NM_030973.4(MED25):c.1786G>A (p.Val596Ile)
Gene: MED25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49835766G>A , CM000681.2:g.49835766G>A GRCh38
NC_000019.9:g.50339023G>A , CM000681.1:g.50339023G>A GRCh37
NC_000019.8:g.55030835G>A NCBI36
NG_017091.1:g.22488G>A , LRG_368:g.22488G>A

Transcript Alleles

HGVS Amino-acid Change
NM_030973.4:c.1786G>A MANE Select NP_112235.2:p.Val596Ile
ENST00000312865.10:c.1786G>A MANE Select ENSP00000326767.5:p.Val596Ile
NM_001378355.1:c.1786G>A NP_001365284.1:p.Val596Ile
NM_030973.3:c.1786G>A , LRG_368t1:c.1786G>A NP_112235.2:p.Val596Ile
ENST00000538643.5:c.1147G>A ENSP00000437496.1:p.Val383Ile
ENST00000593767.1:c.232G>A
ENST00000593767.3:c.1786G>A ENSP00000470692.3:p.Val596Ile
ENST00000594998.1:n.2406G>A
ENST00000595185.5:c.689-1125G>A ENSP00000470027.1:n.689-1125G>A
ENST00000612791.4:c.762-1073G>A ENSP00000479851.1:n.762-1073G>A
ENST00000612854.4:c.451-487G>A ENSP00000482155.1:n.451-487G>A
ENST00000617849.4:c.991G>A ENSP00000484882.1:p.Val331Ile
ENST00000618715.4:c.991G>A ENSP00000480731.1:p.Val331Ile
ENST00000620467.4:c.973-517G>A ENSP00000482659.1:n.973-517G>A
ENST00000622046.1:c.253G>A ENSP00000483584.1:p.Val85Ile
ENST00000622402.4:c.146-61G>A ENSP00000478074.1:n.146-61G>A
XM_011527353.1:c.1786G>A XP_011525655.1:p.Val596Ile