Canonical Allele Identifier: CA516819986

Gene: MED12

Linked Data

• ClinVar Variation Id: 528486
• ClinVar RCV Id: RCV000633704
• dbSNP Id: rs1556339100
• MyVariant Identifiers: chrX:g.70357140C>T (hg19) ; chrX:g.71137290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71137290C>T , CM000685.2:g.71137290C>T	GRCh38
NC_000023.10:g.70357140C>T , CM000685.1:g.70357140C>T	GRCh37
NC_000023.9:g.70273865C>T	NCBI36
NG_012808.1:g.23735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.5535C>T	ENSP00000333125.8:p.Val1845=
ENST00000374102.6:c.5655C>T	ENSP00000363215.2:p.Val1885=
ENST00000444034.2:c.630C>T	ENSP00000404373.2:p.Val210=
ENST00000685082.1:n.208C>T
ENST00000685182.1:n.2458C>T
ENST00000686169.1:n.2032C>T
ENST00000686548.1:c.*5551C>T	ENSP00000509582.1:n.*5551C>T
ENST00000687161.1:n.2370C>T
ENST00000687382.1:c.5655C>T	ENSP00000510724.1:p.Val1885=
ENST00000687542.1:n.190C>T
ENST00000687701.1:n.2405C>T
ENST00000687973.1:n.154C>T
ENST00000688079.1:n.3650C>T
ENST00000688508.1:n.1206C>T
ENST00000688663.1:c.*2576C>T	ENSP00000509348.1:n.*2576C>T
ENST00000688774.1:c.526+261C>T	ENSP00000508823.1:n.526+261C>T
ENST00000688881.1:n.2309C>T
ENST00000688993.1:n.2026C>T
ENST00000689768.1:n.4265C>T
ENST00000690145.1:c.5655C>T	ENSP00000508818.1:p.Val1885=
ENST00000690242.1:c.5655C>T	ENSP00000510090.1:p.Val1885=
ENST00000690250.1:n.3324C>T
ENST00000690807.1:c.630C>T	ENSP00000510476.1:p.Val210=
ENST00000690828.1:n.5911C>T
ENST00000691113.1:c.4134C>T	ENSP00000509755.1:n.4134C>T
ENST00000691426.1:n.4954C>T
ENST00000691468.1:c.5604C>T	ENSP00000509011.1:p.Val1868=
ENST00000691909.1:n.2375C>T
ENST00000692304.1:c.5655C>T	ENSP00000508427.1:p.Val1885=
ENST00000692893.1:n.2964C>T
ENST00000692964.1:n.2489C>T
ENST00000693182.1:n.359C>T
ENST00000693324.1:c.5619C>T	ENSP00000508643.1:p.Val1873=
ENST00000693391.1:c.3600C>T	ENSP00000509563.1:p.Val1200=
ENST00000374080.8:c.5655C>T MANE Select	ENSP00000363193.3:p.Val1885=
ENST00000333646.10:c.5196C>T	ENSP00000333125.7:p.Val1732=
ENST00000374080.7:c.5655C>T	ENSP00000363193.3:p.Val1885=
ENST00000374102.5:c.5655C>T	ENSP00000363215.1:p.Val1885=
ENST00000444034.1:c.317C>T
NM_005120.2:c.5655C>T	NP_005111.2:p.Val1885=
XM_005262317.1:c.5655C>T	XP_005262374.1:p.Val1885=
XM_005262319.1:c.5655C>T	XP_005262376.1:p.Val1885=
NM_005120.3:c.5655C>T MANE Select	NP_005111.2:p.Val1885=