Canonical Allele Identifier: CA9585344
Gene: MED25 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49835536G>C
GRCh37 chr19:g.50338793G>C
Revel Score:
ENST00000355584 0.197
ENST00000377077 0.197
ENST00000312881 0.197
ENST00000312865 (MANE Select) 0.197
ENST00000456294 0.197
ENST00000538643 0.197
ENST00000377070 0.197
ENST00000536547 0.197
gnomAD v2:
19:50338793 G / C
gnomAD v3:
19:49835536 G / C
gnomAD v4:
chr19-49835536-G-C
Joint Max Group AF 0.00167195 (AFR)
Genomes Max Group AF 0.0011082 (AFR)
Exomes Max Group AF 0.0021736 (AFR)
ClinVar RCV:
RCV000539627
RCV001174294
ClinVar Variation:
476802
dbSNP:
369006637
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49835536G>C , CM000681.2:g.49835536G>C GRCh38
NC_000019.9:g.50338793G>C , CM000681.1:g.50338793G>C GRCh37
NC_000019.8:g.55030605G>C NCBI36
NG_017091.1:g.22258G>C , LRG_368:g.22258G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593767.3:c.1677G>C ENSP00000470692.3:p.Met559Ile
ENST00000312865.10:c.1677G>C MANE Select ENSP00000326767.5:p.Met559Ile
ENST00000538643.5:c.1038G>C ENSP00000437496.1:p.Met346Ile
ENST00000593767.1:c.123G>C
ENST00000594998.1:n.2297G>C
ENST00000595185.5:c.689-1355G>C ENSP00000470027.1:n.689-1355G>C
ENST00000612791.4:c.762-1303G>C ENSP00000479851.1:n.762-1303G>C
ENST00000612854.4:c.451-717G>C ENSP00000482155.1:n.451-717G>C
ENST00000617849.4:c.882G>C ENSP00000484882.1:p.Met294Ile
ENST00000618715.4:c.882G>C ENSP00000480731.1:p.Met294Ile
ENST00000620467.4:c.973-747G>C ENSP00000482659.1:n.973-747G>C
ENST00000622046.1:c.144G>C ENSP00000483584.1:p.Met48Ile
ENST00000622402.4:c.146-291G>C ENSP00000478074.1:n.146-291G>C
NM_030973.3:c.1677G>C , LRG_368t1:c.1677G>C NP_112235.2:p.Met559Ile
XM_011527353.1:c.1677G>C XP_011525655.1:p.Met559Ile
NM_001378355.1:c.1677G>C NP_001365284.1:p.Met559Ile
NM_030973.4:c.1677G>C MANE Select NP_112235.2:p.Met559Ile
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