Canonical Allele Identifier: CA2436353595
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71124265T= , CM000685.2:g.71124265T= GRCh38
NC_000023.10:g.70344115T= , CM000685.1:g.70344115T= GRCh37
NC_000023.9:g.70260840T= NCBI36
NG_012808.1:g.10710T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.1745-14T= ENSP00000333125.8:n.1745-14T=
ENST00000374102.6:c.1851T= ENSP00000363215.2:p.Thr617=
ENST00000686548.1:c.*1747T= ENSP00000509582.1:n.*1747T=
ENST00000687382.1:c.1851T= ENSP00000510724.1:p.Thr617=
ENST00000688663.1:c.1851T= ENSP00000509348.1:p.Thr617=
ENST00000689008.1:c.*2185T= ENSP00000509134.1:n.*2185T=
ENST00000689768.1:n.461T=
ENST00000690145.1:c.1851T= ENSP00000508818.1:p.Thr617=
ENST00000690242.1:c.1851T= ENSP00000510090.1:p.Thr617=
ENST00000690828.1:n.2007T=
ENST00000691385.1:n.1129T=
ENST00000691426.1:n.82T=
ENST00000691468.1:c.1851T= ENSP00000509011.1:p.Thr617=
ENST00000692304.1:c.1851T= ENSP00000508427.1:p.Thr617=
ENST00000692864.1:c.*2185T= ENSP00000510321.1:n.*2185T=
ENST00000693324.1:c.1851T= ENSP00000508643.1:p.Thr617=
ENST00000374080.8:c.1851T= MANE Select ENSP00000363193.3:p.Thr617=
ENST00000333646.10:c.1392T= ENSP00000333125.7:p.Thr464=
ENST00000374080.7:c.1851T= ENSP00000363193.3:p.Thr617=
ENST00000374102.5:c.1851T= ENSP00000363215.1:p.Thr617=
NM_005120.2:c.1851T= NP_005111.2:p.Thr617=
XM_005262317.1:c.1851T= XP_005262374.1:p.Thr617=
XM_005262319.1:c.1851T= XP_005262376.1:p.Thr617=
NM_005120.3:c.1851T= MANE Select NP_005111.2:p.Thr617=