Canonical Allele Identifier: CA406913056

Gene: MED25

Linked Data

• dbSNP Id: rs1279680421
• gnomAD v2: 19-50333094-C-T
• gnomAD v4: 19-49829837-C-T
• MyVariant Identifiers: chr19:g.50333094C>T (hg19) ; chr19:g.49829837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49829837C>T , CM000681.2:g.49829837C>T	GRCh38
NC_000019.9:g.50333094C>T , CM000681.1:g.50333094C>T	GRCh37
NC_000019.8:g.55024906C>T	NCBI36
NG_017091.1:g.16559C>T , LRG_368:g.16559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.577C>T	ENSP00000470692.3:p.Leu193Phe
ENST00000312865.10:c.577C>T MANE Select	ENSP00000326767.5:p.Leu193Phe
ENST00000538643.5:c.181-674C>T	ENSP00000437496.1:n.181-674C>T
ENST00000595185.5:c.577C>T	ENSP00000470027.1:p.Leu193Phe
ENST00000612791.4:c.577C>T	ENSP00000479851.1:p.Leu193Phe
ENST00000612854.4:c.450+822C>T	ENSP00000482155.1:n.450+822C>T
ENST00000617849.4:c.158-902C>T	ENSP00000484882.1:n.158-902C>T
ENST00000618715.4:c.158-901C>T	ENSP00000480731.1:n.158-901C>T
ENST00000620467.4:c.577C>T	ENSP00000482659.1:p.Leu193Phe
ENST00000622402.4:c.146-5990C>T	ENSP00000478074.1:n.146-5990C>T
NM_030973.3:c.577C>T , LRG_368t1:c.577C>T	NP_112235.2:p.Leu193Phe
XM_011527353.1:c.577C>T	XP_011525655.1:p.Leu193Phe
NM_001378355.1:c.577C>T	NP_001365284.1:p.Leu193Phe
NM_030973.4:c.577C>T MANE Select	NP_112235.2:p.Leu193Phe