Canonical Allele Identifier: CA516818187
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71119444C>T , CM000685.2:g.71119444C>T GRCh38
NC_000023.10:g.70339294C>T , CM000685.1:g.70339294C>T GRCh37
NC_000023.9:g.70256019C>T NCBI36
NG_012808.1:g.5889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.171C>T ENSP00000333125.8:p.Gly57=
ENST00000374102.6:c.171C>T ENSP00000363215.2:p.Gly57=
ENST00000429213.3:c.171C>T ENSP00000399084.2:p.Gly57=
ENST00000686548.1:c.*67C>T ENSP00000509582.1:n.*67C>T
ENST00000687382.1:c.171C>T ENSP00000510724.1:p.Gly57=
ENST00000688663.1:c.171C>T ENSP00000509348.1:p.Gly57=
ENST00000688718.1:n.107C>T
ENST00000689008.1:c.*67C>T ENSP00000509134.1:n.*67C>T
ENST00000690145.1:c.171C>T ENSP00000508818.1:p.Gly57=
ENST00000690242.1:c.171C>T ENSP00000510090.1:p.Gly57=
ENST00000690828.1:n.327C>T
ENST00000691468.1:c.171C>T ENSP00000509011.1:p.Gly57=
ENST00000692304.1:c.171C>T ENSP00000508427.1:p.Gly57=
ENST00000692864.1:c.*67C>T ENSP00000510321.1:n.*67C>T
ENST00000693324.1:c.171C>T ENSP00000508643.1:p.Gly57=
ENST00000374080.8:c.171C>T MANE Select ENSP00000363193.3:p.Gly57=
ENST00000333646.10:c.-289C>T ENSP00000333125.7:n.-289C>T
ENST00000374080.7:c.171C>T ENSP00000363193.3:p.Gly57=
ENST00000374102.5:c.171C>T ENSP00000363215.1:p.Gly57=
ENST00000429213.2:c.125C>T
NM_005120.2:c.171C>T NP_005111.2:p.Gly57=
XM_005262317.1:c.171C>T XP_005262374.1:p.Gly57=
XM_005262319.1:c.171C>T XP_005262376.1:p.Gly57=
NM_005120.3:c.171C>T MANE Select NP_005111.2:p.Gly57=