Canonical Allele Identifier: CA2436355849
Gene: MED12 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4091C= ENSP00000333125.8:p.Ala1364=
ENST00000374102.6:c.4211C= ENSP00000363215.2:p.Ala1404=
ENST00000685182.1:n.844C=
ENST00000685655.1:c.164C= ENSP00000509298.1:p.Ala55=
ENST00000686169.1:n.588C=
ENST00000686548.1:c.*4107C= ENSP00000509582.1:n.*4107C=
ENST00000687161.1:n.926C=
ENST00000687382.1:c.4211C= ENSP00000510724.1:p.Ala1404=
ENST00000687701.1:n.840C=
ENST00000688079.1:n.2206C=
ENST00000688663.1:c.*1132C= ENSP00000509348.1:n.*1132C=
ENST00000688881.1:n.865C=
ENST00000688993.1:n.412C=
ENST00000689768.1:n.2821C=
ENST00000690145.1:c.4211C= ENSP00000508818.1:p.Ala1404=
ENST00000690242.1:c.4211C= ENSP00000510090.1:p.Ala1404=
ENST00000690250.1:n.1880C=
ENST00000690690.1:c.664C=
ENST00000690828.1:n.4467C=
ENST00000691113.1:c.2690C= ENSP00000509755.1:n.2690C=
ENST00000691426.1:n.3340C=
ENST00000691468.1:c.4160C= ENSP00000509011.1:p.Ala1387=
ENST00000691909.1:n.931C=
ENST00000692304.1:c.4211C= ENSP00000508427.1:p.Ala1404=
ENST00000692893.1:n.1520C=
ENST00000692964.1:n.875C=
ENST00000693050.1:n.718C=
ENST00000693324.1:c.4175C= ENSP00000508643.1:p.Ala1392=
ENST00000693391.1:c.2156C= ENSP00000509563.1:p.Ala719=
ENST00000374080.8:c.4211C= MANE Select ENSP00000363193.3:p.Ala1404=
ENST00000333646.10:c.3752C= ENSP00000333125.7:p.Ala1251=
ENST00000374080.7:c.4211C= ENSP00000363193.3:p.Ala1404=
ENST00000374102.5:c.4211C= ENSP00000363215.1:p.Ala1404=
NM_005120.2:c.4211C= NP_005111.2:p.Ala1404=
XM_005262317.1:c.4211C= XP_005262374.1:p.Ala1404=
XM_005262319.1:c.4211C= XP_005262376.1:p.Ala1404=
NM_005120.3:c.4211C= MANE Select NP_005111.2:p.Ala1404=