Canonical Allele Identifier: CA248234
Gene: MED25 HGNC NCBI

Linked Data

ClinVar Variation Id: 1324
dbSNP Id: rs145770066

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49830790C>T , CM000681.2:g.49830790C>T GRCh38
NC_000019.9:g.50334047C>T , CM000681.1:g.50334047C>T GRCh37
NC_000019.8:g.55025859C>T NCBI36
NG_017091.1:g.17512C>T , LRG_368:g.17512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593767.3:c.1004C>T ENSP00000470692.3:p.Ala335Val
ENST00000312865.10:c.1004C>T MANE Select ENSP00000326767.5:p.Ala335Val
ENST00000538643.5:c.365C>T ENSP00000437496.1:p.Ala122Val
ENST00000595185.5:c.688+842C>T ENSP00000470027.1:n.688+842C>T
ENST00000612791.4:c.761+628C>T ENSP00000479851.1:n.761+628C>T
ENST00000612854.4:c.450+1775C>T ENSP00000482155.1:n.450+1775C>T
ENST00000617849.4:c.209C>T ENSP00000484882.1:p.Ala70Val
ENST00000618715.4:c.209C>T ENSP00000480731.1:p.Ala70Val
ENST00000620467.4:c.972+32C>T ENSP00000482659.1:n.972+32C>T
ENST00000622402.4:c.146-5037C>T ENSP00000478074.1:n.146-5037C>T
NM_030973.3:c.1004C>T , LRG_368t1:c.1004C>T NP_112235.2:p.Ala335Val
XM_011527353.1:c.1004C>T XP_011525655.1:p.Ala335Val
NM_001378355.1:c.1004C>T NP_001365284.1:p.Ala335Val
NM_030973.4:c.1004C>T MANE Select NP_112235.2:p.Ala335Val