Canonical Allele Identifier: CA516819145
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71127367C>A , CM000685.2:g.71127367C>A GRCh38
NC_000023.10:g.70347217C>A , CM000685.1:g.70347217C>A GRCh37
NC_000023.9:g.70263942C>A NCBI36
NG_012808.1:g.13812C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.2761C>A ENSP00000333125.8:p.Arg921=
ENST00000374102.6:c.2881C>A ENSP00000363215.2:p.Arg961=
ENST00000462984.2:n.1413C>A
ENST00000686548.1:c.*2777C>A ENSP00000509582.1:n.*2777C>A
ENST00000687382.1:c.2881C>A ENSP00000510724.1:p.Arg961=
ENST00000688079.1:n.451C>A
ENST00000688663.1:c.2881C>A ENSP00000509348.1:p.Arg961=
ENST00000689768.1:n.1491C>A
ENST00000690145.1:c.2881C>A ENSP00000508818.1:p.Arg961=
ENST00000690242.1:c.2881C>A ENSP00000510090.1:p.Arg961=
ENST00000690828.1:n.3037C>A
ENST00000691113.1:c.935C>A ENSP00000509755.1:n.935C>A
ENST00000691426.1:n.1112C>A
ENST00000691468.1:c.2830C>A ENSP00000509011.1:p.Arg944=
ENST00000692304.1:c.2881C>A ENSP00000508427.1:p.Arg961=
ENST00000693324.1:c.2800C>A ENSP00000508643.1:p.Arg934=
ENST00000693391.1:c.826C>A ENSP00000509563.1:p.Arg276=
ENST00000374080.8:c.2881C>A MANE Select ENSP00000363193.3:p.Arg961=
ENST00000333646.10:c.2422C>A ENSP00000333125.7:p.Arg808=
ENST00000374080.7:c.2881C>A ENSP00000363193.3:p.Arg961=
ENST00000374102.5:c.2881C>A ENSP00000363215.1:p.Arg961=
ENST00000462984.1:n.307C>A
ENST00000471663.5:n.420C>A
NM_005120.2:c.2881C>A NP_005111.2:p.Arg961=
XM_005262317.1:c.2881C>A XP_005262374.1:p.Arg961=
XM_005262319.1:c.2881C>A XP_005262376.1:p.Arg961=
NM_005120.3:c.2881C>A MANE Select NP_005111.2:p.Arg961=