Canonical Allele Identifier: CA413504438

Gene: MED12

Linked Data

• ClinVar Variation Id: 522111
• ClinVar RCV Id: RCV000623246 ; RCV001580299 ; RCV001805226 ; RCV003117433 ; RCV003596075
• dbSNP Id: rs1556334519
• MyVariant Identifiers: chrX:g.70341452G>A (hg19) ; chrX:g.71121602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71121602G>A , CM000685.2:g.71121602G>A	GRCh38
NC_000023.10:g.70341452G>A , CM000685.1:g.70341452G>A	GRCh37
NC_000023.9:g.70258177G>A	NCBI36
NG_012808.1:g.8047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.887G>A	ENSP00000333125.8:p.Arg296Gln
ENST00000374102.6:c.887G>A	ENSP00000363215.2:p.Arg296Gln
ENST00000686548.1:c.*783G>A	ENSP00000509582.1:n.*783G>A
ENST00000687382.1:c.887G>A	ENSP00000510724.1:p.Arg296Gln
ENST00000688663.1:c.887G>A	ENSP00000509348.1:p.Arg296Gln
ENST00000688718.1:n.823G>A
ENST00000689008.1:c.*783G>A	ENSP00000509134.1:n.*783G>A
ENST00000690145.1:c.887G>A	ENSP00000508818.1:p.Arg296Gln
ENST00000690242.1:c.887G>A	ENSP00000510090.1:p.Arg296Gln
ENST00000690828.1:n.1043G>A
ENST00000691385.1:n.165G>A
ENST00000691468.1:c.887G>A	ENSP00000509011.1:p.Arg296Gln
ENST00000692304.1:c.887G>A	ENSP00000508427.1:p.Arg296Gln
ENST00000692864.1:c.*783G>A	ENSP00000510321.1:n.*783G>A
ENST00000693324.1:c.887G>A	ENSP00000508643.1:p.Arg296Gln
ENST00000374080.8:c.887G>A MANE Select	ENSP00000363193.3:p.Arg296Gln
ENST00000333646.10:c.428G>A	ENSP00000333125.7:p.Arg143Gln
ENST00000374080.7:c.887G>A	ENSP00000363193.3:p.Arg296Gln
ENST00000374102.5:c.887G>A	ENSP00000363215.1:p.Arg296Gln
NM_005120.2:c.887G>A	NP_005111.2:p.Arg296Gln
XM_005262317.1:c.887G>A	XP_005262374.1:p.Arg296Gln
XM_005262319.1:c.887G>A	XP_005262376.1:p.Arg296Gln
NM_005120.3:c.887G>A MANE Select	NP_005111.2:p.Arg296Gln