Canonical Allele Identifier: CA406913090

Gene: MED25

Linked Data

• gnomAD v4: 19-49829846-G-A
• MyVariant Identifiers: chr19:g.50333103G>A (hg19) ; chr19:g.49829846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49829846G>A , CM000681.2:g.49829846G>A	GRCh38
NC_000019.9:g.50333103G>A , CM000681.1:g.50333103G>A	GRCh37
NC_000019.8:g.55024915G>A	NCBI36
NG_017091.1:g.16568G>A , LRG_368:g.16568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.586G>A	ENSP00000470692.3:p.Glu196Lys
ENST00000312865.10:c.586G>A MANE Select	ENSP00000326767.5:p.Glu196Lys
ENST00000538643.5:c.181-665G>A	ENSP00000437496.1:n.181-665G>A
ENST00000595185.5:c.586G>A	ENSP00000470027.1:p.Glu196Lys
ENST00000612791.4:c.586G>A	ENSP00000479851.1:p.Glu196Lys
ENST00000612854.4:c.450+831G>A	ENSP00000482155.1:n.450+831G>A
ENST00000617849.4:c.158-893G>A	ENSP00000484882.1:n.158-893G>A
ENST00000618715.4:c.158-892G>A	ENSP00000480731.1:n.158-892G>A
ENST00000620467.4:c.586G>A	ENSP00000482659.1:p.Glu196Lys
ENST00000622402.4:c.146-5981G>A	ENSP00000478074.1:n.146-5981G>A
NM_030973.3:c.586G>A , LRG_368t1:c.586G>A	NP_112235.2:p.Glu196Lys
XM_011527353.1:c.586G>A	XP_011525655.1:p.Glu196Lys
NM_001378355.1:c.586G>A	NP_001365284.1:p.Glu196Lys
NM_030973.4:c.586G>A MANE Select	NP_112235.2:p.Glu196Lys