Canonical Allele Identifier: CA10586140

Gene: MED12

Linked Data

• ClinVar Variation Id: 252964
• ClinVar RCV Id: RCV000239399 ; RCV001008098 ; RCV003225937
• dbSNP Id: rs879255527
• MyVariant Identifiers: chrX:g.70357647dupC (hg19) ; chrX:g.71137797dupC (hg38)
• PubMed: PMID:20301719

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71137797dup , CM000685.2:g.71137797dup	GRCh38
NC_000023.10:g.70357647dup , CM000685.1:g.70357647dup	GRCh37
NC_000023.9:g.70274372dup	NCBI36
NG_012808.1:g.24242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.5778dup	ENSP00000333125.8:p.Ser1927GlnfsTer?
ENST00000374102.6:c.5907dup	ENSP00000363215.2:p.Ser1970GlnfsTer?
ENST00000444034.2:c.873dup	ENSP00000404373.2:p.Ser292GlnfsTer?
ENST00000685182.1:n.2596dup
ENST00000686169.1:n.2284dup
ENST00000686548.1:c.*5803dup	ENSP00000509582.1:n.*5803dup
ENST00000687161.1:n.2613dup
ENST00000687382.1:c.5881+17dup	ENSP00000510724.1:n.5881+17dup
ENST00000687701.1:n.2657dup
ENST00000687973.1:n.571dup
ENST00000688079.1:n.3893dup
ENST00000688508.1:n.1458dup
ENST00000688663.1:c.*2819dup	ENSP00000509348.1:n.*2819dup
ENST00000688774.1:c.676dup	ENSP00000508823.1:p.Gln226ProfsTer20
ENST00000688881.1:n.2561dup
ENST00000688993.1:n.2278dup
ENST00000689489.1:n.217dup
ENST00000689768.1:n.4517dup
ENST00000690145.1:c.5904dup	ENSP00000508818.1:p.Ser1969GlnfsTer?
ENST00000690242.1:c.5890+17dup	ENSP00000510090.1:n.5890+17dup
ENST00000690250.1:n.3559+17dup
ENST00000690807.1:c.733-59dup	ENSP00000510476.1:n.733-59dup
ENST00000690828.1:n.6163dup
ENST00000691113.1:c.4377dup	ENSP00000509755.1:n.4377dup
ENST00000691426.1:n.5197dup
ENST00000691909.1:n.2618dup
ENST00000692304.1:c.5895dup	ENSP00000508427.1:p.Ser1966GlnfsTer?
ENST00000692893.1:n.3216dup
ENST00000692964.1:n.2741dup
ENST00000693182.1:n.776dup
ENST00000693391.1:c.3852dup	ENSP00000509563.1:p.Ser1285GlnfsTer?
ENST00000374080.8:c.5898dup MANE Select	ENSP00000363193.3:p.Ser1967GlnfsTer?
ENST00000333646.10:c.5448dup	ENSP00000333125.7:p.Ser1817GlnfsTer?
ENST00000374080.7:c.5898dup	ENSP00000363193.3:p.Ser1967GlnfsTer?
ENST00000374102.5:c.5895dup	ENSP00000363215.1:p.Ser1966GlnfsTer?
ENST00000444034.1:c.543+17dup
NM_005120.2:c.5898dup	NP_005111.2:p.Ser1967GlnfsTer?
XM_005262317.1:c.5907dup	XP_005262374.1:p.Ser1970GlnfsTer?
XM_005262319.1:c.5890+17dup	XP_005262376.1:n.5890+17dup
NM_005120.3:c.5898dup MANE Select	NP_005111.2:p.Ser1967GlnfsTer?