Canonical Allele Identifier: CA516717188

Gene: MED12

Linked Data

• ClinVar Variation Id: 2021959
• ClinVar RCV Id: RCV003764003
• MyVariant Identifiers: chrX:g.70344226C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71124376C>T , CM000685.2:g.71124376C>T	GRCh38
NC_000023.10:g.70344226C>T , CM000685.1:g.70344226C>T	GRCh37
NC_000023.9:g.70260951C>T	NCBI36
NG_012808.1:g.10821C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.1842C>T	ENSP00000333125.8:p.Ser614=
ENST00000374102.6:c.1962C>T	ENSP00000363215.2:p.Ser654=
ENST00000686548.1:c.*1858C>T	ENSP00000509582.1:n.*1858C>T
ENST00000687382.1:c.1962C>T	ENSP00000510724.1:p.Ser654=
ENST00000688663.1:c.1962C>T	ENSP00000509348.1:p.Ser654=
ENST00000689008.1:c.*2296C>T	ENSP00000509134.1:n.*2296C>T
ENST00000689768.1:n.572C>T
ENST00000690145.1:c.1962C>T	ENSP00000508818.1:p.Ser654=
ENST00000690242.1:c.1962C>T	ENSP00000510090.1:p.Ser654=
ENST00000690828.1:n.2118C>T
ENST00000691385.1:n.1240C>T
ENST00000691426.1:n.193C>T
ENST00000691468.1:c.1962C>T	ENSP00000509011.1:p.Ser654=
ENST00000692304.1:c.1962C>T	ENSP00000508427.1:p.Ser654=
ENST00000692864.1:c.*2296C>T	ENSP00000510321.1:n.*2296C>T
ENST00000693324.1:c.1962C>T	ENSP00000508643.1:p.Ser654=
ENST00000374080.8:c.1962C>T MANE Select	ENSP00000363193.3:p.Ser654=
ENST00000333646.10:c.1503C>T	ENSP00000333125.7:p.Ser501=
ENST00000374080.7:c.1962C>T	ENSP00000363193.3:p.Ser654=
ENST00000374102.5:c.1962C>T	ENSP00000363215.1:p.Ser654=
NM_005120.2:c.1962C>T	NP_005111.2:p.Ser654=
XM_005262317.1:c.1962C>T	XP_005262374.1:p.Ser654=
XM_005262319.1:c.1962C>T	XP_005262376.1:p.Ser654=
NM_005120.3:c.1962C>T MANE Select	NP_005111.2:p.Ser654=