Canonical Allele Identifier: CA413525849
Gene: MED12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132164C>A , CM000685.2:g.71132164C>A GRCh38
NC_000023.10:g.70352014C>A , CM000685.1:g.70352014C>A GRCh37
NC_000023.9:g.70268739C>A NCBI36
NG_012808.1:g.18609C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4091C>A ENSP00000333125.8:p.Ala1364Glu
ENST00000374102.6:c.4211C>A ENSP00000363215.2:p.Ala1404Glu
ENST00000685182.1:n.844C>A
ENST00000685655.1:c.164C>A ENSP00000509298.1:p.Ala55Glu
ENST00000686169.1:n.588C>A
ENST00000686548.1:c.*4107C>A ENSP00000509582.1:n.*4107C>A
ENST00000687161.1:n.926C>A
ENST00000687382.1:c.4211C>A ENSP00000510724.1:p.Ala1404Glu
ENST00000687701.1:n.840C>A
ENST00000688079.1:n.2206C>A
ENST00000688663.1:c.*1132C>A ENSP00000509348.1:n.*1132C>A
ENST00000688881.1:n.865C>A
ENST00000688993.1:n.412C>A
ENST00000689768.1:n.2821C>A
ENST00000690145.1:c.4211C>A ENSP00000508818.1:p.Ala1404Glu
ENST00000690242.1:c.4211C>A ENSP00000510090.1:p.Ala1404Glu
ENST00000690250.1:n.1880C>A
ENST00000690690.1:c.664C>A
ENST00000690828.1:n.4467C>A
ENST00000691113.1:c.2690C>A ENSP00000509755.1:n.2690C>A
ENST00000691426.1:n.3340C>A
ENST00000691468.1:c.4160C>A ENSP00000509011.1:p.Ala1387Glu
ENST00000691909.1:n.931C>A
ENST00000692304.1:c.4211C>A ENSP00000508427.1:p.Ala1404Glu
ENST00000692893.1:n.1520C>A
ENST00000692964.1:n.875C>A
ENST00000693050.1:n.718C>A
ENST00000693324.1:c.4175C>A ENSP00000508643.1:p.Ala1392Glu
ENST00000693391.1:c.2156C>A ENSP00000509563.1:p.Ala719Glu
ENST00000374080.8:c.4211C>A MANE Select ENSP00000363193.3:p.Ala1404Glu
ENST00000333646.10:c.3752C>A ENSP00000333125.7:p.Ala1251Glu
ENST00000374080.7:c.4211C>A ENSP00000363193.3:p.Ala1404Glu
ENST00000374102.5:c.4211C>A ENSP00000363215.1:p.Ala1404Glu
NM_005120.2:c.4211C>A NP_005111.2:p.Ala1404Glu
XM_005262317.1:c.4211C>A XP_005262374.1:p.Ala1404Glu
XM_005262319.1:c.4211C>A XP_005262376.1:p.Ala1404Glu
NM_005120.3:c.4211C>A MANE Select NP_005111.2:p.Ala1404Glu