Canonical Allele Identifier: CA413520321

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71129384G>A , CM000685.2:g.71129384G>A	GRCh38
NC_000023.10:g.70349234G>A , CM000685.1:g.70349234G>A	GRCh37
NC_000023.9:g.70265959G>A	NCBI36
NG_012808.1:g.15829G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.3646G>A MANE Select	NP_005111.2:p.Val1216Met
ENST00000374080.8:c.3646G>A MANE Select	ENSP00000363193.3:p.Val1216Met
NM_005120.2:c.3646G>A	NP_005111.2:p.Val1216Met
ENST00000333646.10:c.3187G>A	ENSP00000333125.7:p.Val1063Met
ENST00000333646.11:c.3526G>A	ENSP00000333125.8:p.Val1176Met
ENST00000374080.7:c.3646G>A	ENSP00000363193.3:p.Val1216Met
ENST00000374102.5:c.3646G>A	ENSP00000363215.1:p.Val1216Met
ENST00000374102.6:c.3646G>A	ENSP00000363215.2:p.Val1216Met
ENST00000460771.1:n.102G>A
ENST00000489199.2:c.800G>A
ENST00000686548.1:c.*3542G>A	ENSP00000509582.1:n.*3542G>A
ENST00000687161.1:n.361G>A
ENST00000687382.1:c.3646G>A	ENSP00000510724.1:p.Val1216Met
ENST00000688079.1:n.1641G>A
ENST00000688622.1:n.333G>A
ENST00000688663.1:c.*567G>A	ENSP00000509348.1:n.*567G>A
ENST00000689768.1:n.2256G>A
ENST00000690145.1:c.3646G>A	ENSP00000508818.1:p.Val1216Met
ENST00000690242.1:c.3646G>A	ENSP00000510090.1:p.Val1216Met
ENST00000690250.1:n.1143G>A
ENST00000690690.1:c.171G>A
ENST00000690828.1:n.3902G>A
ENST00000691113.1:c.2125G>A	ENSP00000509755.1:n.2125G>A
ENST00000691283.1:c.171G>A
ENST00000691426.1:n.2775G>A
ENST00000691468.1:c.3595G>A	ENSP00000509011.1:p.Val1199Met
ENST00000692304.1:c.3646G>A	ENSP00000508427.1:p.Val1216Met
ENST00000692893.1:n.955G>A
ENST00000693324.1:c.3610G>A	ENSP00000508643.1:p.Val1204Met
ENST00000693391.1:c.1591G>A	ENSP00000509563.1:p.Val531Met
XM_005262317.1:c.3646G>A	XP_005262374.1:p.Val1216Met
XM_005262319.1:c.3646G>A	XP_005262376.1:p.Val1216Met