Canonical Allele Identifier: CA413509531

Gene: MED12

Linked Data

• MyVariant Identifiers: chrX:g.70344117T>G (hg19) ; chrX:g.71124267T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71124267T>G , CM000685.2:g.71124267T>G	GRCh38
NC_000023.10:g.70344117T>G , CM000685.1:g.70344117T>G	GRCh37
NC_000023.9:g.70260842T>G	NCBI36
NG_012808.1:g.10712T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.1745-12T>G	ENSP00000333125.8:n.1745-12T>G
ENST00000374102.6:c.1853T>G	ENSP00000363215.2:p.Leu618Arg
ENST00000686548.1:c.*1749T>G	ENSP00000509582.1:n.*1749T>G
ENST00000687382.1:c.1853T>G	ENSP00000510724.1:p.Leu618Arg
ENST00000688663.1:c.1853T>G	ENSP00000509348.1:p.Leu618Arg
ENST00000689008.1:c.*2187T>G	ENSP00000509134.1:n.*2187T>G
ENST00000689768.1:n.463T>G
ENST00000690145.1:c.1853T>G	ENSP00000508818.1:p.Leu618Arg
ENST00000690242.1:c.1853T>G	ENSP00000510090.1:p.Leu618Arg
ENST00000690828.1:n.2009T>G
ENST00000691385.1:n.1131T>G
ENST00000691426.1:n.84T>G
ENST00000691468.1:c.1853T>G	ENSP00000509011.1:p.Leu618Arg
ENST00000692304.1:c.1853T>G	ENSP00000508427.1:p.Leu618Arg
ENST00000692864.1:c.*2187T>G	ENSP00000510321.1:n.*2187T>G
ENST00000693324.1:c.1853T>G	ENSP00000508643.1:p.Leu618Arg
ENST00000374080.8:c.1853T>G MANE Select	ENSP00000363193.3:p.Leu618Arg
ENST00000333646.10:c.1394T>G	ENSP00000333125.7:p.Leu465Arg
ENST00000374080.7:c.1853T>G	ENSP00000363193.3:p.Leu618Arg
ENST00000374102.5:c.1853T>G	ENSP00000363215.1:p.Leu618Arg
NM_005120.2:c.1853T>G	NP_005111.2:p.Leu618Arg
XM_005262317.1:c.1853T>G	XP_005262374.1:p.Leu618Arg
XM_005262319.1:c.1853T>G	XP_005262376.1:p.Leu618Arg
NM_005120.3:c.1853T>G MANE Select	NP_005111.2:p.Leu618Arg