Canonical Allele Identifier: CA10576140

Gene: MED12

Linked Data

• ClinVar Variation Id: 225897
• ClinVar RCV Id: RCV001753638 ; RCV003985309
• dbSNP Id: rs875989806
• gnomAD v2: X-70343021-G-A
• gnomAD v4: X-71123171-G-A
• COSMIC: COSM1124644 ; COSM1124645
• MyVariant Identifiers: chrX:g.70343021G>A (hg19) ; chrX:g.71123171G>A (hg38)
• PubMed: PMID:27159028

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71123171G>A , CM000685.2:g.71123171G>A	GRCh38
NC_000023.10:g.70343021G>A , CM000685.1:g.70343021G>A	GRCh37
NC_000023.9:g.70259746G>A	NCBI36
NG_012808.1:g.9616G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.1562G>A	ENSP00000333125.8:p.Arg521His
ENST00000374102.6:c.1562G>A	ENSP00000363215.2:p.Arg521His
ENST00000686548.1:c.*1458G>A	ENSP00000509582.1:n.*1458G>A
ENST00000687382.1:c.1562G>A	ENSP00000510724.1:p.Arg521His
ENST00000688663.1:c.1562G>A	ENSP00000509348.1:p.Arg521His
ENST00000688718.1:n.2042G>A
ENST00000689008.1:c.*1458G>A	ENSP00000509134.1:n.*1458G>A
ENST00000689768.1:n.172G>A
ENST00000690145.1:c.1562G>A	ENSP00000508818.1:p.Arg521His
ENST00000690242.1:c.1562G>A	ENSP00000510090.1:p.Arg521His
ENST00000690828.1:n.1718G>A
ENST00000691385.1:n.840G>A
ENST00000691468.1:c.1562G>A	ENSP00000509011.1:p.Arg521His
ENST00000692304.1:c.1562G>A	ENSP00000508427.1:p.Arg521His
ENST00000692864.1:c.*1458G>A	ENSP00000510321.1:n.*1458G>A
ENST00000693324.1:c.1562G>A	ENSP00000508643.1:p.Arg521His
ENST00000374080.8:c.1562G>A MANE Select	ENSP00000363193.3:p.Arg521His
ENST00000333646.10:c.1103G>A	ENSP00000333125.7:p.Arg368His
ENST00000374080.7:c.1562G>A	ENSP00000363193.3:p.Arg521His
ENST00000374102.5:c.1562G>A	ENSP00000363215.1:p.Arg521His
NM_005120.2:c.1562G>A	NP_005111.2:p.Arg521His
XM_005262317.1:c.1562G>A	XP_005262374.1:p.Arg521His
XM_005262319.1:c.1562G>A	XP_005262376.1:p.Arg521His
NM_005120.3:c.1562G>A MANE Select	NP_005111.2:p.Arg521His