Canonical Allele Identifier: CA330976889

Gene: MED12

Linked Data

• ClinVar Variation Id: 1193639
• ClinVar RCV Id: RCV001556110 ; RCV002414262 ; RCV003771701
• dbSNP Id: rs199582086
• gnomAD v2: X-70344159-G-A
• gnomAD v3: X-71124309-G-A
• gnomAD v4: X-71124309-G-A
• MyVariant Identifiers: chrX:g.70344159G>A (hg19) ; chrX:g.71124309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71124309G>A , CM000685.2:g.71124309G>A	GRCh38
NC_000023.10:g.70344159G>A , CM000685.1:g.70344159G>A	GRCh37
NC_000023.9:g.70260884G>A	NCBI36
NG_012808.1:g.10754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.1775G>A	ENSP00000333125.8:p.Arg592Gln
ENST00000374102.6:c.1895G>A	ENSP00000363215.2:p.Arg632Gln
ENST00000686548.1:c.*1791G>A	ENSP00000509582.1:n.*1791G>A
ENST00000687382.1:c.1895G>A	ENSP00000510724.1:p.Arg632Gln
ENST00000688663.1:c.1895G>A	ENSP00000509348.1:p.Arg632Gln
ENST00000689008.1:c.*2229G>A	ENSP00000509134.1:n.*2229G>A
ENST00000689768.1:n.505G>A
ENST00000690145.1:c.1895G>A	ENSP00000508818.1:p.Arg632Gln
ENST00000690242.1:c.1895G>A	ENSP00000510090.1:p.Arg632Gln
ENST00000690828.1:n.2051G>A
ENST00000691385.1:n.1173G>A
ENST00000691426.1:n.126G>A
ENST00000691468.1:c.1895G>A	ENSP00000509011.1:p.Arg632Gln
ENST00000692304.1:c.1895G>A	ENSP00000508427.1:p.Arg632Gln
ENST00000692864.1:c.*2229G>A	ENSP00000510321.1:n.*2229G>A
ENST00000693324.1:c.1895G>A	ENSP00000508643.1:p.Arg632Gln
ENST00000374080.8:c.1895G>A MANE Select	ENSP00000363193.3:p.Arg632Gln
ENST00000333646.10:c.1436G>A	ENSP00000333125.7:p.Arg479Gln
ENST00000374080.7:c.1895G>A	ENSP00000363193.3:p.Arg632Gln
ENST00000374102.5:c.1895G>A	ENSP00000363215.1:p.Arg632Gln
NM_005120.2:c.1895G>A	NP_005111.2:p.Arg632Gln
XM_005262317.1:c.1895G>A	XP_005262374.1:p.Arg632Gln
XM_005262319.1:c.1895G>A	XP_005262376.1:p.Arg632Gln
NM_005120.3:c.1895G>A MANE Select	NP_005111.2:p.Arg632Gln