Canonical Allele Identifier: CA309517658
Community Standard Title: NM_030973.4(MED25):c.1375-58A>G
Gene: MED25 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49832250A>G , CM000681.2:g.49832250A>G GRCh38
NC_000019.9:g.50335507A>G , CM000681.1:g.50335507A>G GRCh37
NC_000019.8:g.55027319A>G NCBI36
NG_017091.1:g.18972A>G , LRG_368:g.18972A>G

Transcript Alleles

HGVS Amino-acid Change
NM_030973.4:c.1375-58A>G MANE Select NP_112235.2:n.1375-58A>G
ENST00000312865.10:c.1375-58A>G MANE Select ENSP00000326767.5:n.1375-58A>G
NM_001378355.1:c.1375-58A>G NP_001365284.1:n.1375-58A>G
NM_030973.3:c.1375-58A>G , LRG_368t1:c.1375-58A>G NP_112235.2:n.1375-58A>G
ENST00000538643.5:c.736-58A>G ENSP00000437496.1:n.736-58A>G
ENST00000593767.3:c.1375-58A>G ENSP00000470692.3:n.1375-58A>G
ENST00000595185.5:c.688+2302A>G ENSP00000470027.1:n.688+2302A>G
ENST00000599722.1:n.397-58A>G
ENST00000612791.4:c.761+2088A>G ENSP00000479851.1:n.761+2088A>G
ENST00000612854.4:c.450+3235A>G ENSP00000482155.1:n.450+3235A>G
ENST00000617849.4:c.580-58A>G ENSP00000484882.1:n.580-58A>G
ENST00000618715.4:c.580-58A>G ENSP00000480731.1:n.580-58A>G
ENST00000620467.4:c.972+1492A>G ENSP00000482659.1:n.972+1492A>G
ENST00000622402.4:c.146-3577A>G ENSP00000478074.1:n.146-3577A>G
XM_011527353.1:c.1375-58A>G XP_011525655.1:n.1375-58A>G