Canonical Allele Identifier: CA348760

Gene: MED25

Linked Data

• ClinVar Variation Id: 220933
• ClinVar RCV Id: RCV000204538 ; RCV000426883 ; RCV001173683 ; RCV001282946 ; RCV002057053
• dbSNP Id: rs193291405
• ExAC: 19:50338843 C / G
• gnomAD v2: 19-50338843-C-G
• gnomAD v3: 19-49835586-C-G
• gnomAD v4: 19-49835586-C-G
• MyVariant Identifiers: chr19:g.50338843C>G (hg19) ; chr19:g.49835586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49835586C>G , CM000681.2:g.49835586C>G	GRCh38
NC_000019.9:g.50338843C>G , CM000681.1:g.50338843C>G	GRCh37
NC_000019.8:g.55030655C>G	NCBI36
NG_017091.1:g.22308C>G , LRG_368:g.22308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.1727C>G	ENSP00000470692.3:p.Ala576Gly
ENST00000312865.10:c.1727C>G MANE Select	ENSP00000326767.5:p.Ala576Gly
ENST00000538643.5:c.1088C>G	ENSP00000437496.1:p.Ala363Gly
ENST00000593767.1:c.173C>G
ENST00000594998.1:n.2347C>G
ENST00000595185.5:c.689-1305C>G	ENSP00000470027.1:n.689-1305C>G
ENST00000612791.4:c.762-1253C>G	ENSP00000479851.1:n.762-1253C>G
ENST00000612854.4:c.451-667C>G	ENSP00000482155.1:n.451-667C>G
ENST00000617849.4:c.932C>G	ENSP00000484882.1:p.Ala311Gly
ENST00000618715.4:c.932C>G	ENSP00000480731.1:p.Ala311Gly
ENST00000620467.4:c.973-697C>G	ENSP00000482659.1:n.973-697C>G
ENST00000622046.1:c.194C>G	ENSP00000483584.1:p.Ala65Gly
ENST00000622402.4:c.146-241C>G	ENSP00000478074.1:n.146-241C>G
NM_030973.3:c.1727C>G , LRG_368t1:c.1727C>G	NP_112235.2:p.Ala576Gly
XM_011527353.1:c.1727C>G	XP_011525655.1:p.Ala576Gly
NM_001378355.1:c.1727C>G	NP_001365284.1:p.Ala576Gly
NM_030973.4:c.1727C>G MANE Select	NP_112235.2:p.Ala576Gly