Canonical Allele Identifier: CA406914806

Gene: MED25

Linked Data

• ClinVar Variation Id: 1024836
• ClinVar RCV Id: RCV001325064
• dbSNP Id: rs1447845181
• gnomAD v2: 19-50333961-C-G
• gnomAD v4: 19-49830704-C-G
• MyVariant Identifiers: chr19:g.50333961C>G (hg19) ; chr19:g.49830704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49830704C>G , CM000681.2:g.49830704C>G	GRCh38
NC_000019.9:g.50333961C>G , CM000681.1:g.50333961C>G	GRCh37
NC_000019.8:g.55025773C>G	NCBI36
NG_017091.1:g.17426C>G , LRG_368:g.17426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.918C>G	ENSP00000470692.3:p.Ile306Met
ENST00000312865.10:c.918C>G MANE Select	ENSP00000326767.5:p.Ile306Met
ENST00000538643.5:c.279C>G	ENSP00000437496.1:p.Ile93Met
ENST00000595185.5:c.688+756C>G	ENSP00000470027.1:n.688+756C>G
ENST00000612791.4:c.761+542C>G	ENSP00000479851.1:n.761+542C>G
ENST00000612854.4:c.450+1689C>G	ENSP00000482155.1:n.450+1689C>G
ENST00000617849.4:c.158-35C>G	ENSP00000484882.1:n.158-35C>G
ENST00000618715.4:c.158-34C>G	ENSP00000480731.1:n.158-34C>G
ENST00000620467.4:c.918C>G	ENSP00000482659.1:p.Ile306Met
ENST00000622402.4:c.146-5123C>G	ENSP00000478074.1:n.146-5123C>G
NM_030973.3:c.918C>G , LRG_368t1:c.918C>G	NP_112235.2:p.Ile306Met
XM_011527353.1:c.918C>G	XP_011525655.1:p.Ile306Met
NM_001378355.1:c.918C>G	NP_001365284.1:p.Ile306Met
NM_030973.4:c.918C>G MANE Select	NP_112235.2:p.Ile306Met