Canonical Allele Identifier: CA413525860

Gene: MED12

Linked Data

• dbSNP Id: rs2147813535
• MyVariant Identifiers: chrX:g.70352017G>A (hg19) ; chrX:g.71132167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132167G>A , CM000685.2:g.71132167G>A	GRCh38
NC_000023.10:g.70352017G>A , CM000685.1:g.70352017G>A	GRCh37
NC_000023.9:g.70268742G>A	NCBI36
NG_012808.1:g.18612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.4094G>A	ENSP00000333125.8:p.Ser1365Asn
ENST00000374102.6:c.4214G>A	ENSP00000363215.2:p.Ser1405Asn
ENST00000685182.1:n.847G>A
ENST00000685655.1:c.167G>A	ENSP00000509298.1:p.Ser56Asn
ENST00000686169.1:n.591G>A
ENST00000686548.1:c.*4110G>A	ENSP00000509582.1:n.*4110G>A
ENST00000687161.1:n.929G>A
ENST00000687382.1:c.4214G>A	ENSP00000510724.1:p.Ser1405Asn
ENST00000687701.1:n.843G>A
ENST00000688079.1:n.2209G>A
ENST00000688663.1:c.*1135G>A	ENSP00000509348.1:n.*1135G>A
ENST00000688881.1:n.868G>A
ENST00000688993.1:n.415G>A
ENST00000689768.1:n.2824G>A
ENST00000690145.1:c.4214G>A	ENSP00000508818.1:p.Ser1405Asn
ENST00000690242.1:c.4214G>A	ENSP00000510090.1:p.Ser1405Asn
ENST00000690250.1:n.1883G>A
ENST00000690690.1:c.667G>A
ENST00000690828.1:n.4470G>A
ENST00000691113.1:c.2693G>A	ENSP00000509755.1:n.2693G>A
ENST00000691426.1:n.3343G>A
ENST00000691468.1:c.4163G>A	ENSP00000509011.1:p.Ser1388Asn
ENST00000691909.1:n.934G>A
ENST00000692304.1:c.4214G>A	ENSP00000508427.1:p.Ser1405Asn
ENST00000692893.1:n.1523G>A
ENST00000692964.1:n.878G>A
ENST00000693050.1:n.721G>A
ENST00000693324.1:c.4178G>A	ENSP00000508643.1:p.Ser1393Asn
ENST00000693391.1:c.2159G>A	ENSP00000509563.1:p.Ser720Asn
ENST00000374080.8:c.4214G>A MANE Select	ENSP00000363193.3:p.Ser1405Asn
ENST00000333646.10:c.3755G>A	ENSP00000333125.7:p.Ser1252Asn
ENST00000374080.7:c.4214G>A	ENSP00000363193.3:p.Ser1405Asn
ENST00000374102.5:c.4214G>A	ENSP00000363215.1:p.Ser1405Asn
NM_005120.2:c.4214G>A	NP_005111.2:p.Ser1405Asn
XM_005262317.1:c.4214G>A	XP_005262374.1:p.Ser1405Asn
XM_005262319.1:c.4214G>A	XP_005262376.1:p.Ser1405Asn
NM_005120.3:c.4214G>A MANE Select	NP_005111.2:p.Ser1405Asn