Canonical Allele Identifier: CA413525883
Gene: MED12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132171C>A , CM000685.2:g.71132171C>A GRCh38
NC_000023.10:g.70352021C>A , CM000685.1:g.70352021C>A GRCh37
NC_000023.9:g.70268746C>A NCBI36
NG_012808.1:g.18616C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4098C>A ENSP00000333125.8:p.Asn1366Lys
ENST00000374102.6:c.4218C>A ENSP00000363215.2:p.Asn1406Lys
ENST00000685182.1:n.851C>A
ENST00000685655.1:c.171C>A ENSP00000509298.1:p.Asn57Lys
ENST00000686169.1:n.595C>A
ENST00000686548.1:c.*4114C>A ENSP00000509582.1:n.*4114C>A
ENST00000687161.1:n.933C>A
ENST00000687382.1:c.4218C>A ENSP00000510724.1:p.Asn1406Lys
ENST00000687701.1:n.847C>A
ENST00000688079.1:n.2213C>A
ENST00000688663.1:c.*1139C>A ENSP00000509348.1:n.*1139C>A
ENST00000688881.1:n.872C>A
ENST00000688993.1:n.419C>A
ENST00000689768.1:n.2828C>A
ENST00000690145.1:c.4218C>A ENSP00000508818.1:p.Asn1406Lys
ENST00000690242.1:c.4218C>A ENSP00000510090.1:p.Asn1406Lys
ENST00000690250.1:n.1887C>A
ENST00000690690.1:c.671C>A
ENST00000690828.1:n.4474C>A
ENST00000691113.1:c.2697C>A ENSP00000509755.1:n.2697C>A
ENST00000691426.1:n.3347C>A
ENST00000691468.1:c.4167C>A ENSP00000509011.1:p.Asn1389Lys
ENST00000691909.1:n.938C>A
ENST00000692304.1:c.4218C>A ENSP00000508427.1:p.Asn1406Lys
ENST00000692893.1:n.1527C>A
ENST00000692964.1:n.882C>A
ENST00000693050.1:n.725C>A
ENST00000693324.1:c.4182C>A ENSP00000508643.1:p.Asn1394Lys
ENST00000693391.1:c.2163C>A ENSP00000509563.1:p.Asn721Lys
ENST00000374080.8:c.4218C>A MANE Select ENSP00000363193.3:p.Asn1406Lys
ENST00000333646.10:c.3759C>A ENSP00000333125.7:p.Asn1253Lys
ENST00000374080.7:c.4218C>A ENSP00000363193.3:p.Asn1406Lys
ENST00000374102.5:c.4218C>A ENSP00000363215.1:p.Asn1406Lys
NM_005120.2:c.4218C>A NP_005111.2:p.Asn1406Lys
XM_005262317.1:c.4218C>A XP_005262374.1:p.Asn1406Lys
XM_005262319.1:c.4218C>A XP_005262376.1:p.Asn1406Lys
NM_005120.3:c.4218C>A MANE Select NP_005111.2:p.Asn1406Lys