Canonical Allele Identifier: CA10444356

Gene: MED12

Linked Data

• ClinVar Variation Id: 259634
• ClinVar RCV Id: RCV000244546 ; RCV001711561 ; RCV001775736 ; RCV001775735 ; RCV001775737
• dbSNP Id: rs2075790
• ExAC: X:70345593 C / T
• gnomAD v2: X-70345593-C-T
• gnomAD v3: X-71125743-C-T
• gnomAD v4: X-71125743-C-T
• COSMIC: COSN17151477 ; COSN26728820
• MyVariant Identifiers: chrX:g.70345593C>T (hg19) ; chrX:g.71125743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71125743C>T , CM000685.2:g.71125743C>T	GRCh38
NC_000023.10:g.70345593C>T , CM000685.1:g.70345593C>T	GRCh37
NC_000023.9:g.70262318C>T	NCBI36
NG_012808.1:g.12188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.2302+30C>T	ENSP00000333125.8:n.2302+30C>T
ENST00000374102.6:c.2422+30C>T	ENSP00000363215.2:n.2422+30C>T
ENST00000686548.1:c.*2318+30C>T	ENSP00000509582.1:n.*2318+30C>T
ENST00000687382.1:c.2422+30C>T	ENSP00000510724.1:n.2422+30C>T
ENST00000688663.1:c.2422+30C>T	ENSP00000509348.1:n.2422+30C>T
ENST00000689008.1:c.*2756+30C>T	ENSP00000509134.1:n.*2756+30C>T
ENST00000689768.1:n.1032+30C>T
ENST00000690145.1:c.2422+30C>T	ENSP00000508818.1:n.2422+30C>T
ENST00000690242.1:c.2422+30C>T	ENSP00000510090.1:n.2422+30C>T
ENST00000690828.1:n.2578+30C>T
ENST00000691113.1:c.367+30C>T	ENSP00000509755.1:n.367+30C>T
ENST00000691385.1:n.1700+30C>T
ENST00000691426.1:n.653+30C>T
ENST00000691468.1:c.2371+248C>T	ENSP00000509011.1:n.2371+248C>T
ENST00000692304.1:c.2422+30C>T	ENSP00000508427.1:n.2422+30C>T
ENST00000693324.1:c.2341+30C>T	ENSP00000508643.1:n.2341+30C>T
ENST00000693391.1:c.367+30C>T	ENSP00000509563.1:n.367+30C>T
ENST00000374080.8:c.2422+30C>T MANE Select	ENSP00000363193.3:n.2422+30C>T
ENST00000333646.10:c.1963+30C>T	ENSP00000333125.7:n.1963+30C>T
ENST00000374080.7:c.2422+30C>T	ENSP00000363193.3:n.2422+30C>T
ENST00000374102.5:c.2422+30C>T	ENSP00000363215.1:n.2422+30C>T
NM_005120.2:c.2422+30C>T	NP_005111.2:n.2422+30C>T
XM_005262317.1:c.2422+30C>T	XP_005262374.1:n.2422+30C>T
XM_005262319.1:c.2422+30C>T	XP_005262376.1:n.2422+30C>T
NM_005120.3:c.2422+30C>T MANE Select	NP_005111.2:n.2422+30C>T