Canonical Allele Identifier: CA143730

Gene: MED12

Linked Data

• ClinVar Variation Id: 50279
• ClinVar RCV Id: RCV000043499 ; RCV001580266 ; RCV001268310
• dbSNP Id: rs387907360
• MyVariant Identifiers: chrX:g.70348536G>A (hg19) ; chrX:g.71128686G>A (hg38)
• PubMed: PMID:8279489 ; PMID:16700052 ; PMID:20301719 ; PMID:23395478

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71128686G>A , CM000685.2:g.71128686G>A	GRCh38
NC_000023.10:g.70348536G>A , CM000685.1:g.70348536G>A	GRCh37
NC_000023.9:g.70265261G>A	NCBI36
NG_012808.1:g.15131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.3323G>A	ENSP00000333125.8:p.Arg1108His
ENST00000374102.6:c.3443G>A	ENSP00000363215.2:p.Arg1148His
ENST00000489199.2:c.462G>A
ENST00000686548.1:c.*3339G>A	ENSP00000509582.1:n.*3339G>A
ENST00000687382.1:c.3443G>A	ENSP00000510724.1:p.Arg1148His
ENST00000688079.1:n.1438G>A
ENST00000688663.1:c.*229G>A	ENSP00000509348.1:n.*229G>A
ENST00000689768.1:n.2053G>A
ENST00000690145.1:c.3443G>A	ENSP00000508818.1:p.Arg1148His
ENST00000690242.1:c.3443G>A	ENSP00000510090.1:p.Arg1148His
ENST00000690250.1:n.445G>A
ENST00000690828.1:n.3599G>A
ENST00000691113.1:c.1922G>A	ENSP00000509755.1:n.1922G>A
ENST00000691426.1:n.2177G>A
ENST00000691468.1:c.3392G>A	ENSP00000509011.1:p.Arg1131His
ENST00000692304.1:c.3443G>A	ENSP00000508427.1:p.Arg1148His
ENST00000692893.1:n.357G>A
ENST00000693324.1:c.3407G>A	ENSP00000508643.1:p.Arg1136His
ENST00000693391.1:c.1388G>A	ENSP00000509563.1:p.Arg463His
ENST00000374080.8:c.3443G>A MANE Select	ENSP00000363193.3:p.Arg1148His
ENST00000333646.10:c.2984G>A	ENSP00000333125.7:p.Arg995His
ENST00000374080.7:c.3443G>A	ENSP00000363193.3:p.Arg1148His
ENST00000374102.5:c.3443G>A	ENSP00000363215.1:p.Arg1148His
ENST00000489199.1:n.215G>A
NM_005120.2:c.3443G>A	NP_005111.2:p.Arg1148His
XM_005262317.1:c.3443G>A	XP_005262374.1:p.Arg1148His
XM_005262319.1:c.3443G>A	XP_005262376.1:p.Arg1148His
NM_005120.3:c.3443G>A MANE Select	NP_005111.2:p.Arg1148His