Canonical Allele Identifier: CA413525878
Gene: MED12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132170A>T , CM000685.2:g.71132170A>T GRCh38
NC_000023.10:g.70352020A>T , CM000685.1:g.70352020A>T GRCh37
NC_000023.9:g.70268745A>T NCBI36
NG_012808.1:g.18615A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4097A>T ENSP00000333125.8:p.Asn1366Ile
ENST00000374102.6:c.4217A>T ENSP00000363215.2:p.Asn1406Ile
ENST00000685182.1:n.850A>T
ENST00000685655.1:c.170A>T ENSP00000509298.1:p.Asn57Ile
ENST00000686169.1:n.594A>T
ENST00000686548.1:c.*4113A>T ENSP00000509582.1:n.*4113A>T
ENST00000687161.1:n.932A>T
ENST00000687382.1:c.4217A>T ENSP00000510724.1:p.Asn1406Ile
ENST00000687701.1:n.846A>T
ENST00000688079.1:n.2212A>T
ENST00000688663.1:c.*1138A>T ENSP00000509348.1:n.*1138A>T
ENST00000688881.1:n.871A>T
ENST00000688993.1:n.418A>T
ENST00000689768.1:n.2827A>T
ENST00000690145.1:c.4217A>T ENSP00000508818.1:p.Asn1406Ile
ENST00000690242.1:c.4217A>T ENSP00000510090.1:p.Asn1406Ile
ENST00000690250.1:n.1886A>T
ENST00000690690.1:c.670A>T
ENST00000690828.1:n.4473A>T
ENST00000691113.1:c.2696A>T ENSP00000509755.1:n.2696A>T
ENST00000691426.1:n.3346A>T
ENST00000691468.1:c.4166A>T ENSP00000509011.1:p.Asn1389Ile
ENST00000691909.1:n.937A>T
ENST00000692304.1:c.4217A>T ENSP00000508427.1:p.Asn1406Ile
ENST00000692893.1:n.1526A>T
ENST00000692964.1:n.881A>T
ENST00000693050.1:n.724A>T
ENST00000693324.1:c.4181A>T ENSP00000508643.1:p.Asn1394Ile
ENST00000693391.1:c.2162A>T ENSP00000509563.1:p.Asn721Ile
ENST00000374080.8:c.4217A>T MANE Select ENSP00000363193.3:p.Asn1406Ile
ENST00000333646.10:c.3758A>T ENSP00000333125.7:p.Asn1253Ile
ENST00000374080.7:c.4217A>T ENSP00000363193.3:p.Asn1406Ile
ENST00000374102.5:c.4217A>T ENSP00000363215.1:p.Asn1406Ile
NM_005120.2:c.4217A>T NP_005111.2:p.Asn1406Ile
XM_005262317.1:c.4217A>T XP_005262374.1:p.Asn1406Ile
XM_005262319.1:c.4217A>T XP_005262376.1:p.Asn1406Ile
NM_005120.3:c.4217A>T MANE Select NP_005111.2:p.Asn1406Ile