Canonical Allele Identifier: CA241807

Gene: MED25

Linked Data

• ClinVar Variation Id: 195385
• ClinVar RCV Id: RCV000175954 ; RCV000654006 ; RCV000724688 ; RCV001174293 ; RCV002516695
• dbSNP Id: rs199743509
• ExAC: 19:50321822 T / G
• gnomAD v2: 19-50321822-T-G
• gnomAD v3: 19-49818565-T-G
• gnomAD v4: 19-49818565-T-G
• MyVariant Identifiers: chr19:g.50321822T>G (hg19) ; chr19:g.49818565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49818565T>G , CM000681.2:g.49818565T>G	GRCh38
NC_000019.9:g.50321822T>G , CM000681.1:g.50321822T>G	GRCh37
NC_000019.8:g.55013634T>G	NCBI36
NG_017091.1:g.5287T>G , LRG_368:g.5287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.135-6T>G	ENSP00000470692.3:n.135-6T>G
ENST00000312865.10:c.135-6T>G MANE Select	ENSP00000326767.5:n.135-6T>G
ENST00000538643.5:c.135-6T>G	ENSP00000437496.1:n.135-6T>G
ENST00000593595.1:n.195-6T>G
ENST00000593636.1:n.188-6T>G
ENST00000595185.5:c.135-6T>G	ENSP00000470027.1:n.135-6T>G
ENST00000612791.4:c.135-6T>G	ENSP00000479851.1:n.135-6T>G
ENST00000612854.4:c.135-6T>G	ENSP00000482155.1:n.135-6T>G
ENST00000617849.4:c.135-6T>G	ENSP00000484882.1:n.135-6T>G
ENST00000618715.4:c.135-6T>G	ENSP00000480731.1:n.135-6T>G
ENST00000620467.4:c.135-6T>G	ENSP00000482659.1:n.135-6T>G
ENST00000622402.4:c.135-6T>G	ENSP00000478074.1:n.135-6T>G
NM_030973.3:c.135-6T>G , LRG_368t1:c.135-6T>G	NP_112235.2:n.135-6T>G
XM_011527353.1:c.135-6T>G	XP_011525655.1:n.135-6T>G
NM_001378355.1:c.135-6T>G	NP_001365284.1:n.135-6T>G
NM_030973.4:c.135-6T>G MANE Select	NP_112235.2:n.135-6T>G