Canonical Allele Identifier: CA143732

Gene: MED12

Linked Data

• ClinVar Variation Id: 50281
• ClinVar RCV Id: RCV000043501 ; RCV001580268
• dbSNP Id: rs387907362
• MyVariant Identifiers: chrX:g.70356290C>A (hg19) ; chrX:g.71136440C>A (hg38)
• PubMed: PMID:20301719 ; PMID:23395478

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71136440C>A , CM000685.2:g.71136440C>A	GRCh38
NC_000023.10:g.70356290C>A , CM000685.1:g.70356290C>A	GRCh37
NC_000023.9:g.70273015C>A	NCBI36
NG_012808.1:g.22885C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.5065C>A	ENSP00000333125.8:p.His1689Asn
ENST00000374102.6:c.5185C>A	ENSP00000363215.2:p.His1729Asn
ENST00000444034.2:c.160C>A	ENSP00000404373.2:p.His54Asn
ENST00000685182.1:n.1988C>A
ENST00000686169.1:n.1562C>A
ENST00000686548.1:c.*5081C>A	ENSP00000509582.1:n.*5081C>A
ENST00000687161.1:n.1900C>A
ENST00000687382.1:c.5185C>A	ENSP00000510724.1:p.His1729Asn
ENST00000687701.1:n.1935C>A
ENST00000688079.1:n.3180C>A
ENST00000688508.1:n.736C>A
ENST00000688663.1:c.*2106C>A	ENSP00000509348.1:n.*2106C>A
ENST00000688774.1:c.160C>A	ENSP00000508823.1:p.His54Asn
ENST00000688881.1:n.1839C>A
ENST00000688993.1:n.1556C>A
ENST00000689768.1:n.3795C>A
ENST00000690145.1:c.5185C>A	ENSP00000508818.1:p.His1729Asn
ENST00000690242.1:c.5185C>A	ENSP00000510090.1:p.His1729Asn
ENST00000690250.1:n.2854C>A
ENST00000690807.1:c.160C>A	ENSP00000510476.1:p.His54Asn
ENST00000690828.1:n.5441C>A
ENST00000691113.1:c.3664C>A	ENSP00000509755.1:n.3664C>A
ENST00000691426.1:n.4484C>A
ENST00000691468.1:c.5134C>A	ENSP00000509011.1:p.His1712Asn
ENST00000691909.1:n.1905C>A
ENST00000692304.1:c.5185C>A	ENSP00000508427.1:p.His1729Asn
ENST00000692893.1:n.2494C>A
ENST00000692964.1:n.2019C>A
ENST00000693324.1:c.5149C>A	ENSP00000508643.1:p.His1717Asn
ENST00000693391.1:c.3130C>A	ENSP00000509563.1:p.His1044Asn
ENST00000374080.8:c.5185C>A MANE Select	ENSP00000363193.3:p.His1729Asn
ENST00000333646.10:c.4726C>A	ENSP00000333125.7:p.His1576Asn
ENST00000374080.7:c.5185C>A	ENSP00000363193.3:p.His1729Asn
ENST00000374102.5:c.5185C>A	ENSP00000363215.1:p.His1729Asn
NM_005120.2:c.5185C>A	NP_005111.2:p.His1729Asn
XM_005262317.1:c.5185C>A	XP_005262374.1:p.His1729Asn
XM_005262319.1:c.5185C>A	XP_005262376.1:p.His1729Asn
NM_005120.3:c.5185C>A MANE Select	NP_005111.2:p.His1729Asn