Canonical Allele Identifier: CA413522300

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71129748G>A , CM000685.2:g.71129748G>A	GRCh38
NC_000023.10:g.70349598G>A , CM000685.1:g.70349598G>A	GRCh37
NC_000023.9:g.70266323G>A	NCBI36
NG_012808.1:g.16193G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.3760G>A MANE Select	NP_005111.2:p.Gly1254Arg
ENST00000374080.8:c.3760G>A MANE Select	ENSP00000363193.3:p.Gly1254Arg
NM_005120.2:c.3760G>A	NP_005111.2:p.Gly1254Arg
ENST00000333646.10:c.3301G>A	ENSP00000333125.7:p.Gly1101Arg
ENST00000333646.11:c.3640G>A	ENSP00000333125.8:p.Gly1214Arg
ENST00000374080.7:c.3760G>A	ENSP00000363193.3:p.Gly1254Arg
ENST00000374102.5:c.3760G>A	ENSP00000363215.1:p.Gly1254Arg
ENST00000374102.6:c.3760G>A	ENSP00000363215.2:p.Gly1254Arg
ENST00000460771.1:n.216G>A
ENST00000489199.2:c.914G>A
ENST00000686548.1:c.*3656G>A	ENSP00000509582.1:n.*3656G>A
ENST00000687161.1:n.475G>A
ENST00000687382.1:c.3760G>A	ENSP00000510724.1:p.Gly1254Arg
ENST00000688079.1:n.1755G>A
ENST00000688622.1:n.447G>A
ENST00000688663.1:c.*681G>A	ENSP00000509348.1:n.*681G>A
ENST00000689768.1:n.2370G>A
ENST00000690145.1:c.3760G>A	ENSP00000508818.1:p.Gly1254Arg
ENST00000690242.1:c.3760G>A	ENSP00000510090.1:p.Gly1254Arg
ENST00000690250.1:n.1250G>A
ENST00000690690.1:c.285G>A
ENST00000690828.1:n.4016G>A
ENST00000691113.1:c.2239G>A	ENSP00000509755.1:n.2239G>A
ENST00000691283.1:c.285G>A
ENST00000691426.1:n.2889G>A
ENST00000691468.1:c.3709G>A	ENSP00000509011.1:p.Gly1237Arg
ENST00000692304.1:c.3760G>A	ENSP00000508427.1:p.Gly1254Arg
ENST00000692893.1:n.1069G>A
ENST00000693324.1:c.3724G>A	ENSP00000508643.1:p.Gly1242Arg
ENST00000693391.1:c.1705G>A	ENSP00000509563.1:p.Gly569Arg
XM_005262317.1:c.3760G>A	XP_005262374.1:p.Gly1254Arg
XM_005262319.1:c.3760G>A	XP_005262376.1:p.Gly1254Arg