Canonical Allele Identifier: CA143731
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 50280
ClinVar RCV Id: RCV000043500 RCV001580267
dbSNP Id: rs387907361
MyVariant Identifiers: chrX:g.70348981T>C (hg19) chrX:g.71129131T>C (hg38)
PubMed: PMID:20301719 PMID:23395478
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71129131T>C , CM000685.2:g.71129131T>C GRCh38
NC_000023.10:g.70348981T>C , CM000685.1:g.70348981T>C GRCh37
NC_000023.9:g.70265706T>C NCBI36
NG_012808.1:g.15576T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.3373T>C ENSP00000333125.8:p.Ser1125Pro
ENST00000374102.6:c.3493T>C ENSP00000363215.2:p.Ser1165Pro
ENST00000489199.2:c.647T>C
ENST00000686548.1:c.*3389T>C ENSP00000509582.1:n.*3389T>C
ENST00000687161.1:n.108T>C
ENST00000687382.1:c.3493T>C ENSP00000510724.1:p.Ser1165Pro
ENST00000688079.1:n.1488T>C
ENST00000688622.1:n.80T>C
ENST00000688663.1:c.*414T>C ENSP00000509348.1:n.*414T>C
ENST00000689768.1:n.2103T>C
ENST00000690145.1:c.3493T>C ENSP00000508818.1:p.Ser1165Pro
ENST00000690242.1:c.3493T>C ENSP00000510090.1:p.Ser1165Pro
ENST00000690250.1:n.890T>C
ENST00000690690.1:c.18T>C
ENST00000690828.1:n.3649T>C
ENST00000691113.1:c.1972T>C ENSP00000509755.1:n.1972T>C
ENST00000691283.1:c.18T>C
ENST00000691426.1:n.2622T>C
ENST00000691468.1:c.3442T>C ENSP00000509011.1:p.Ser1148Pro
ENST00000692304.1:c.3493T>C ENSP00000508427.1:p.Ser1165Pro
ENST00000692893.1:n.802T>C
ENST00000693324.1:c.3457T>C ENSP00000508643.1:p.Ser1153Pro
ENST00000693391.1:c.1438T>C ENSP00000509563.1:p.Ser480Pro
ENST00000374080.8:c.3493T>C MANE Select ENSP00000363193.3:p.Ser1165Pro
ENST00000333646.10:c.3034T>C ENSP00000333125.7:p.Ser1012Pro
ENST00000374080.7:c.3493T>C ENSP00000363193.3:p.Ser1165Pro
ENST00000374102.5:c.3493T>C ENSP00000363215.1:p.Ser1165Pro
NM_005120.2:c.3493T>C NP_005111.2:p.Ser1165Pro
XM_005262317.1:c.3493T>C XP_005262374.1:p.Ser1165Pro
XM_005262319.1:c.3493T>C XP_005262376.1:p.Ser1165Pro
NM_005120.3:c.3493T>C MANE Select NP_005111.2:p.Ser1165Pro
Search 100 bp 5'
Search 100 bp 3'