Canonical Allele Identifier: CA16044154
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 225253
ClinVar RCV Id: RCV000416709
dbSNP Id: rs1057519381
MyVariant Identifiers: chrX:g.70344126G>A (hg19) chrX:g.71124276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71124276G>A , CM000685.2:g.71124276G>A GRCh38
NC_000023.10:g.70344126G>A , CM000685.1:g.70344126G>A GRCh37
NC_000023.9:g.70260851G>A NCBI36
NG_012808.1:g.10721G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333646.11:c.1745-3G>A ENSP00000333125.8:n.1745-3G>A
ENST00000374102.6:c.1862G>A ENSP00000363215.2:p.Arg621Gln
ENST00000686548.1:c.*1758G>A ENSP00000509582.1:n.*1758G>A
ENST00000687382.1:c.1862G>A ENSP00000510724.1:p.Arg621Gln
ENST00000688663.1:c.1862G>A ENSP00000509348.1:p.Arg621Gln
ENST00000689008.1:c.*2196G>A ENSP00000509134.1:n.*2196G>A
ENST00000689768.1:n.472G>A
ENST00000690145.1:c.1862G>A ENSP00000508818.1:p.Arg621Gln
ENST00000690242.1:c.1862G>A ENSP00000510090.1:p.Arg621Gln
ENST00000690828.1:n.2018G>A
ENST00000691385.1:n.1140G>A
ENST00000691426.1:n.93G>A
ENST00000691468.1:c.1862G>A ENSP00000509011.1:p.Arg621Gln
ENST00000692304.1:c.1862G>A ENSP00000508427.1:p.Arg621Gln
ENST00000692864.1:c.*2196G>A ENSP00000510321.1:n.*2196G>A
ENST00000693324.1:c.1862G>A ENSP00000508643.1:p.Arg621Gln
ENST00000374080.8:c.1862G>A MANE Select ENSP00000363193.3:p.Arg621Gln
ENST00000333646.10:c.1403G>A ENSP00000333125.7:p.Arg468Gln
ENST00000374080.7:c.1862G>A ENSP00000363193.3:p.Arg621Gln
ENST00000374102.5:c.1862G>A ENSP00000363215.1:p.Arg621Gln
NM_005120.2:c.1862G>A NP_005111.2:p.Arg621Gln
XM_005262317.1:c.1862G>A XP_005262374.1:p.Arg621Gln
XM_005262319.1:c.1862G>A XP_005262376.1:p.Arg621Gln
NM_005120.3:c.1862G>A MANE Select NP_005111.2:p.Arg621Gln
Search 100 bp 5'
Search 100 bp 3'