Canonical Allele Identifier: CA413525901
Gene: MED12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132174G>C , CM000685.2:g.71132174G>C GRCh38
NC_000023.10:g.70352024G>C , CM000685.1:g.70352024G>C GRCh37
NC_000023.9:g.70268749G>C NCBI36
NG_012808.1:g.18619G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4101G>C ENSP00000333125.8:p.Met1367Ile
ENST00000374102.6:c.4221G>C ENSP00000363215.2:p.Met1407Ile
ENST00000685182.1:n.854G>C
ENST00000685655.1:c.174G>C ENSP00000509298.1:p.Met58Ile
ENST00000686169.1:n.598G>C
ENST00000686548.1:c.*4117G>C ENSP00000509582.1:n.*4117G>C
ENST00000687161.1:n.936G>C
ENST00000687382.1:c.4221G>C ENSP00000510724.1:p.Met1407Ile
ENST00000687701.1:n.850G>C
ENST00000688079.1:n.2216G>C
ENST00000688663.1:c.*1142G>C ENSP00000509348.1:n.*1142G>C
ENST00000688881.1:n.875G>C
ENST00000688993.1:n.422G>C
ENST00000689768.1:n.2831G>C
ENST00000690145.1:c.4221G>C ENSP00000508818.1:p.Met1407Ile
ENST00000690242.1:c.4221G>C ENSP00000510090.1:p.Met1407Ile
ENST00000690250.1:n.1890G>C
ENST00000690690.1:c.674G>C
ENST00000690828.1:n.4477G>C
ENST00000691113.1:c.2700G>C ENSP00000509755.1:n.2700G>C
ENST00000691426.1:n.3350G>C
ENST00000691468.1:c.4170G>C ENSP00000509011.1:p.Met1390Ile
ENST00000691909.1:n.941G>C
ENST00000692304.1:c.4221G>C ENSP00000508427.1:p.Met1407Ile
ENST00000692893.1:n.1530G>C
ENST00000692964.1:n.885G>C
ENST00000693050.1:n.728G>C
ENST00000693324.1:c.4185G>C ENSP00000508643.1:p.Met1395Ile
ENST00000693391.1:c.2166G>C ENSP00000509563.1:p.Met722Ile
ENST00000374080.8:c.4221G>C MANE Select ENSP00000363193.3:p.Met1407Ile
ENST00000333646.10:c.3762G>C ENSP00000333125.7:p.Met1254Ile
ENST00000374080.7:c.4221G>C ENSP00000363193.3:p.Met1407Ile
ENST00000374102.5:c.4221G>C ENSP00000363215.1:p.Met1407Ile
NM_005120.2:c.4221G>C NP_005111.2:p.Met1407Ile
XM_005262317.1:c.4221G>C XP_005262374.1:p.Met1407Ile
XM_005262319.1:c.4221G>C XP_005262376.1:p.Met1407Ile
NM_005120.3:c.4221G>C MANE Select NP_005111.2:p.Met1407Ile