Canonical Allele Identifier: CA9585490
Community Standard Title: NM_030973.4(MED25):c.2146+17G>T
Gene: MED25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49836423G>T , CM000681.2:g.49836423G>T GRCh38
NC_000019.9:g.50339680G>T , CM000681.1:g.50339680G>T GRCh37
NC_000019.8:g.55031492G>T NCBI36
NG_017091.1:g.23145G>T , LRG_368:g.23145G>T

Transcript Alleles

HGVS Amino-acid Change
NM_030973.4:c.2146+17G>T MANE Select NP_112235.2:n.2146+17G>T
ENST00000312865.10:c.2146+17G>T MANE Select ENSP00000326767.5:n.2146+17G>T
NM_001378355.1:c.2146+17G>T NP_001365284.1:n.2146+17G>T
NM_030973.3:c.2146+17G>T , LRG_368t1:c.2146+17G>T NP_112235.2:n.2146+17G>T
ENST00000538643.5:c.1507+17G>T ENSP00000437496.1:n.1507+17G>T
ENST00000593767.1:c.592+17G>T
ENST00000593767.3:c.2146+17G>T ENSP00000470692.3:n.2146+17G>T
ENST00000594998.1:n.2783G>T
ENST00000595185.5:c.689-468G>T ENSP00000470027.1:n.689-468G>T
ENST00000612791.4:c.762-416G>T ENSP00000479851.1:n.762-416G>T
ENST00000612854.4:c.604+17G>T ENSP00000482155.1:n.604+17G>T
ENST00000617849.4:c.1351+17G>T ENSP00000484882.1:n.1351+17G>T
ENST00000618715.4:c.1351+17G>T ENSP00000480731.1:n.1351+17G>T
ENST00000620467.4:c.1096+17G>T ENSP00000482659.1:n.1096+17G>T
ENST00000622046.1:c.626G>T ENSP00000483584.1:p.Gly209Val
ENST00000622402.4:c.445+17G>T ENSP00000478074.1:n.445+17G>T
XM_011527353.1:c.2146+17G>T XP_011525655.1:n.2146+17G>T