Canonical Allele Identifier: CA320088

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132100G>A , CM000685.2:g.71132100G>A	GRCh38
NC_000023.10:g.70351950G>A , CM000685.1:g.70351950G>A	GRCh37
NC_000023.9:g.70268675G>A	NCBI36
NG_012808.1:g.18545G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.4147G>A MANE Select	NP_005111.2:p.Ala1383Thr
ENST00000374080.8:c.4147G>A MANE Select	ENSP00000363193.3:p.Ala1383Thr
NM_005120.2:c.4147G>A	NP_005111.2:p.Ala1383Thr
ENST00000333646.10:c.3688G>A	ENSP00000333125.7:p.Ala1230Thr
ENST00000333646.11:c.4027G>A	ENSP00000333125.8:p.Ala1343Thr
ENST00000374080.7:c.4147G>A	ENSP00000363193.3:p.Ala1383Thr
ENST00000374102.5:c.4147G>A	ENSP00000363215.1:p.Ala1383Thr
ENST00000374102.6:c.4147G>A	ENSP00000363215.2:p.Ala1383Thr
ENST00000685182.1:n.780G>A
ENST00000685655.1:c.100G>A	ENSP00000509298.1:p.Ala34Thr
ENST00000686169.1:n.524G>A
ENST00000686548.1:c.*4043G>A	ENSP00000509582.1:n.*4043G>A
ENST00000687161.1:n.862G>A
ENST00000687382.1:c.4147G>A	ENSP00000510724.1:p.Ala1383Thr
ENST00000687701.1:n.776G>A
ENST00000688079.1:n.2142G>A
ENST00000688663.1:c.*1068G>A	ENSP00000509348.1:n.*1068G>A
ENST00000688881.1:n.801G>A
ENST00000688993.1:n.348G>A
ENST00000689768.1:n.2757G>A
ENST00000690145.1:c.4147G>A	ENSP00000508818.1:p.Ala1383Thr
ENST00000690242.1:c.4147G>A	ENSP00000510090.1:p.Ala1383Thr
ENST00000690250.1:n.1816G>A
ENST00000690690.1:c.600G>A
ENST00000690828.1:n.4403G>A
ENST00000691113.1:c.2626G>A	ENSP00000509755.1:n.2626G>A
ENST00000691426.1:n.3276G>A
ENST00000691468.1:c.4096G>A	ENSP00000509011.1:p.Ala1366Thr
ENST00000691909.1:n.867G>A
ENST00000692304.1:c.4147G>A	ENSP00000508427.1:p.Ala1383Thr
ENST00000692893.1:n.1456G>A
ENST00000692964.1:n.811G>A
ENST00000693050.1:n.654G>A
ENST00000693324.1:c.4111G>A	ENSP00000508643.1:p.Ala1371Thr
ENST00000693391.1:c.2092G>A	ENSP00000509563.1:p.Ala698Thr
XM_005262317.1:c.4147G>A	XP_005262374.1:p.Ala1383Thr
XM_005262319.1:c.4147G>A	XP_005262376.1:p.Ala1383Thr