Canonical Allele Identifier: CA406914463

Gene: MED25

Linked Data

• gnomAD v4: 19-49830538-G-C
• MyVariant Identifiers: chr19:g.50333795G>C (hg19) ; chr19:g.49830538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49830538G>C , CM000681.2:g.49830538G>C	GRCh38
NC_000019.9:g.50333795G>C , CM000681.1:g.50333795G>C	GRCh37
NC_000019.8:g.55025607G>C	NCBI36
NG_017091.1:g.17260G>C , LRG_368:g.17260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593767.3:c.847G>C	ENSP00000470692.3:p.Val283Leu
ENST00000312865.10:c.847G>C MANE Select	ENSP00000326767.5:p.Val283Leu
ENST00000538643.5:c.208G>C	ENSP00000437496.1:p.Val70Leu
ENST00000595185.5:c.688+590G>C	ENSP00000470027.1:n.688+590G>C
ENST00000612791.4:c.761+376G>C	ENSP00000479851.1:n.761+376G>C
ENST00000612854.4:c.450+1523G>C	ENSP00000482155.1:n.450+1523G>C
ENST00000617849.4:c.158-201G>C	ENSP00000484882.1:n.158-201G>C
ENST00000618715.4:c.158-200G>C	ENSP00000480731.1:n.158-200G>C
ENST00000620467.4:c.847G>C	ENSP00000482659.1:p.Val283Leu
ENST00000622402.4:c.146-5289G>C	ENSP00000478074.1:n.146-5289G>C
NM_030973.3:c.847G>C , LRG_368t1:c.847G>C	NP_112235.2:p.Val283Leu
XM_011527353.1:c.847G>C	XP_011525655.1:p.Val283Leu
NM_001378355.1:c.847G>C	NP_001365284.1:p.Val283Leu
NM_030973.4:c.847G>C MANE Select	NP_112235.2:p.Val283Leu