Canonical Allele Identifier: CA413525908
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313836
ClinVar RCV Id: RCV001769482
dbSNP Id: rs867023185

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71132175C>A , CM000685.2:g.71132175C>A GRCh38
NC_000023.10:g.70352025C>A , CM000685.1:g.70352025C>A GRCh37
NC_000023.9:g.70268750C>A NCBI36
NG_012808.1:g.18620C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.4102C>A ENSP00000333125.8:p.Pro1368Thr
ENST00000374102.6:c.4222C>A ENSP00000363215.2:p.Pro1408Thr
ENST00000685182.1:n.855C>A
ENST00000685655.1:c.175C>A ENSP00000509298.1:p.Pro59Thr
ENST00000686169.1:n.599C>A
ENST00000686548.1:c.*4118C>A ENSP00000509582.1:n.*4118C>A
ENST00000687161.1:n.937C>A
ENST00000687382.1:c.4222C>A ENSP00000510724.1:p.Pro1408Thr
ENST00000687701.1:n.851C>A
ENST00000688079.1:n.2217C>A
ENST00000688663.1:c.*1143C>A ENSP00000509348.1:n.*1143C>A
ENST00000688881.1:n.876C>A
ENST00000688993.1:n.423C>A
ENST00000689768.1:n.2832C>A
ENST00000690145.1:c.4222C>A ENSP00000508818.1:p.Pro1408Thr
ENST00000690242.1:c.4222C>A ENSP00000510090.1:p.Pro1408Thr
ENST00000690250.1:n.1891C>A
ENST00000690690.1:c.675C>A
ENST00000690828.1:n.4478C>A
ENST00000691113.1:c.2701C>A ENSP00000509755.1:n.2701C>A
ENST00000691426.1:n.3351C>A
ENST00000691468.1:c.4171C>A ENSP00000509011.1:p.Pro1391Thr
ENST00000691909.1:n.942C>A
ENST00000692304.1:c.4222C>A ENSP00000508427.1:p.Pro1408Thr
ENST00000692893.1:n.1531C>A
ENST00000692964.1:n.886C>A
ENST00000693050.1:n.729C>A
ENST00000693324.1:c.4186C>A ENSP00000508643.1:p.Pro1396Thr
ENST00000693391.1:c.2167C>A ENSP00000509563.1:p.Pro723Thr
ENST00000374080.8:c.4222C>A MANE Select ENSP00000363193.3:p.Pro1408Thr
ENST00000333646.10:c.3763C>A ENSP00000333125.7:p.Pro1255Thr
ENST00000374080.7:c.4222C>A ENSP00000363193.3:p.Pro1408Thr
ENST00000374102.5:c.4222C>A ENSP00000363215.1:p.Pro1408Thr
NM_005120.2:c.4222C>A NP_005111.2:p.Pro1408Thr
XM_005262317.1:c.4222C>A XP_005262374.1:p.Pro1408Thr
XM_005262319.1:c.4222C>A XP_005262376.1:p.Pro1408Thr
NM_005120.3:c.4222C>A MANE Select NP_005111.2:p.Pro1408Thr