Canonical Allele Identifier: CA516819476

Gene: MED12

Linked Data

• dbSNP Id: rs2147813559
• MyVariant Identifiers: chrX:g.70352018C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132168C>T , CM000685.2:g.71132168C>T	GRCh38
NC_000023.10:g.70352018C>T , CM000685.1:g.70352018C>T	GRCh37
NC_000023.9:g.70268743C>T	NCBI36
NG_012808.1:g.18613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.4095C>T	ENSP00000333125.8:p.Ser1365=
ENST00000374102.6:c.4215C>T	ENSP00000363215.2:p.Ser1405=
ENST00000685182.1:n.848C>T
ENST00000685655.1:c.168C>T	ENSP00000509298.1:p.Ser56=
ENST00000686169.1:n.592C>T
ENST00000686548.1:c.*4111C>T	ENSP00000509582.1:n.*4111C>T
ENST00000687161.1:n.930C>T
ENST00000687382.1:c.4215C>T	ENSP00000510724.1:p.Ser1405=
ENST00000687701.1:n.844C>T
ENST00000688079.1:n.2210C>T
ENST00000688663.1:c.*1136C>T	ENSP00000509348.1:n.*1136C>T
ENST00000688881.1:n.869C>T
ENST00000688993.1:n.416C>T
ENST00000689768.1:n.2825C>T
ENST00000690145.1:c.4215C>T	ENSP00000508818.1:p.Ser1405=
ENST00000690242.1:c.4215C>T	ENSP00000510090.1:p.Ser1405=
ENST00000690250.1:n.1884C>T
ENST00000690690.1:c.668C>T
ENST00000690828.1:n.4471C>T
ENST00000691113.1:c.2694C>T	ENSP00000509755.1:n.2694C>T
ENST00000691426.1:n.3344C>T
ENST00000691468.1:c.4164C>T	ENSP00000509011.1:p.Ser1388=
ENST00000691909.1:n.935C>T
ENST00000692304.1:c.4215C>T	ENSP00000508427.1:p.Ser1405=
ENST00000692893.1:n.1524C>T
ENST00000692964.1:n.879C>T
ENST00000693050.1:n.722C>T
ENST00000693324.1:c.4179C>T	ENSP00000508643.1:p.Ser1393=
ENST00000693391.1:c.2160C>T	ENSP00000509563.1:p.Ser720=
ENST00000374080.8:c.4215C>T MANE Select	ENSP00000363193.3:p.Ser1405=
ENST00000333646.10:c.3756C>T	ENSP00000333125.7:p.Ser1252=
ENST00000374080.7:c.4215C>T	ENSP00000363193.3:p.Ser1405=
ENST00000374102.5:c.4215C>T	ENSP00000363215.1:p.Ser1405=
NM_005120.2:c.4215C>T	NP_005111.2:p.Ser1405=
XM_005262317.1:c.4215C>T	XP_005262374.1:p.Ser1405=
XM_005262319.1:c.4215C>T	XP_005262376.1:p.Ser1405=
NM_005120.3:c.4215C>T MANE Select	NP_005111.2:p.Ser1405=