Canonical Allele Identifier: CA406914491

Gene: MED25

Linked Data

• ClinVar Variation Id: 1056429
• ClinVar RCV Id: RCV001365259
• dbSNP Id: rs191366132
• gnomAD v4: 19-49830545-C-A
• MyVariant Identifiers: chr19:g.50333802C>A (hg19) ; chr19:g.49830545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49830545C>A , CM000681.2:g.49830545C>A	GRCh38
NC_000019.9:g.50333802C>A , CM000681.1:g.50333802C>A	GRCh37
NC_000019.8:g.55025614C>A	NCBI36
NG_017091.1:g.17267C>A , LRG_368:g.17267C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.854C>A	ENSP00000470692.3:p.Ala285Glu
ENST00000312865.10:c.854C>A MANE Select	ENSP00000326767.5:p.Ala285Glu
ENST00000538643.5:c.215C>A	ENSP00000437496.1:p.Ala72Glu
ENST00000595185.5:c.688+597C>A	ENSP00000470027.1:n.688+597C>A
ENST00000612791.4:c.761+383C>A	ENSP00000479851.1:n.761+383C>A
ENST00000612854.4:c.450+1530C>A	ENSP00000482155.1:n.450+1530C>A
ENST00000617849.4:c.158-194C>A	ENSP00000484882.1:n.158-194C>A
ENST00000618715.4:c.158-193C>A	ENSP00000480731.1:n.158-193C>A
ENST00000620467.4:c.854C>A	ENSP00000482659.1:p.Ala285Glu
ENST00000622402.4:c.146-5282C>A	ENSP00000478074.1:n.146-5282C>A
NM_030973.3:c.854C>A , LRG_368t1:c.854C>A	NP_112235.2:p.Ala285Glu
XM_011527353.1:c.854C>A	XP_011525655.1:p.Ala285Glu
NM_001378355.1:c.854C>A	NP_001365284.1:p.Ala285Glu
NM_030973.4:c.854C>A MANE Select	NP_112235.2:p.Ala285Glu