Canonical Allele Identifier: CA9584923

Gene: MED25

Linked Data

• ClinVar Variation Id: 379339
• ClinVar RCV Id: RCV000428275 ; RCV000469894 ; RCV001173674 ; RCV001282029
• dbSNP Id: rs149788020
• ExAC: 19:50333114 C / A
• gnomAD v2: 19-50333114-C-A
• gnomAD v3: 19-49829857-C-A
• gnomAD v4: 19-49829857-C-A
• MyVariant Identifiers: chr19:g.50333114C>A (hg19) ; chr19:g.49829857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49829857C>A , CM000681.2:g.49829857C>A	GRCh38
NC_000019.9:g.50333114C>A , CM000681.1:g.50333114C>A	GRCh37
NC_000019.8:g.55024926C>A	NCBI36
NG_017091.1:g.16579C>A , LRG_368:g.16579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.597C>A	ENSP00000470692.3:p.Ala199=
ENST00000312865.10:c.597C>A MANE Select	ENSP00000326767.5:p.Ala199=
ENST00000538643.5:c.181-654C>A	ENSP00000437496.1:n.181-654C>A
ENST00000595185.5:c.597C>A	ENSP00000470027.1:p.Ala199=
ENST00000612791.4:c.597C>A	ENSP00000479851.1:p.Ala199=
ENST00000612854.4:c.450+842C>A	ENSP00000482155.1:n.450+842C>A
ENST00000617849.4:c.158-882C>A	ENSP00000484882.1:n.158-882C>A
ENST00000618715.4:c.158-881C>A	ENSP00000480731.1:n.158-881C>A
ENST00000620467.4:c.597C>A	ENSP00000482659.1:p.Ala199=
ENST00000622402.4:c.146-5970C>A	ENSP00000478074.1:n.146-5970C>A
NM_030973.3:c.597C>A , LRG_368t1:c.597C>A	NP_112235.2:p.Ala199=
XM_011527353.1:c.597C>A	XP_011525655.1:p.Ala199=
NM_001378355.1:c.597C>A	NP_001365284.1:p.Ala199=
NM_030973.4:c.597C>A MANE Select	NP_112235.2:p.Ala199=