Canonical Allele Identifier: CA9585243
Community Standard Title: NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)
Gene: MED25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49832149C>T , CM000681.2:g.49832149C>T GRCh38
NC_000019.9:g.50335406C>T , CM000681.1:g.50335406C>T GRCh37
NC_000019.8:g.55027218C>T NCBI36
NG_017091.1:g.18871C>T , LRG_368:g.18871C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030973.4:c.1366C>T MANE Select NP_112235.2:p.Gln456Ter
ENST00000312865.10:c.1366C>T MANE Select ENSP00000326767.5:p.Gln456Ter
NM_001378355.1:c.1366C>T NP_001365284.1:p.Gln456Ter
NM_030973.3:c.1366C>T , LRG_368t1:c.1366C>T NP_112235.2:p.Gln456Ter
ENST00000538643.5:c.727C>T ENSP00000437496.1:p.Gln243Ter
ENST00000593767.3:c.1366C>T ENSP00000470692.3:p.Gln456Ter
ENST00000595185.5:c.688+2201C>T ENSP00000470027.1:n.688+2201C>T
ENST00000599722.1:n.388C>T
ENST00000612791.4:c.761+1987C>T ENSP00000479851.1:n.761+1987C>T
ENST00000612854.4:c.450+3134C>T ENSP00000482155.1:n.450+3134C>T
ENST00000617849.4:c.571C>T ENSP00000484882.1:p.Gln191Ter
ENST00000618715.4:c.571C>T ENSP00000480731.1:p.Gln191Ter
ENST00000620467.4:c.972+1391C>T ENSP00000482659.1:n.972+1391C>T
ENST00000622402.4:c.146-3678C>T ENSP00000478074.1:n.146-3678C>T
XM_011527353.1:c.1366C>T XP_011525655.1:p.Gln456Ter