Canonical Allele Identifier: CA10444265
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1980789
dbSNP Id: rs746981338
gnomAD v2: X-70344207-A-C
gnomAD v4: X-71124357-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71124357A>C , CM000685.2:g.71124357A>C GRCh38
NC_000023.10:g.70344207A>C , CM000685.1:g.70344207A>C GRCh37
NC_000023.9:g.70260932A>C NCBI36
NG_012808.1:g.10802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.1823A>C ENSP00000333125.8:p.Glu608Ala
ENST00000374102.6:c.1943A>C ENSP00000363215.2:p.Glu648Ala
ENST00000686548.1:c.*1839A>C ENSP00000509582.1:n.*1839A>C
ENST00000687382.1:c.1943A>C ENSP00000510724.1:p.Glu648Ala
ENST00000688663.1:c.1943A>C ENSP00000509348.1:p.Glu648Ala
ENST00000689008.1:c.*2277A>C ENSP00000509134.1:n.*2277A>C
ENST00000689768.1:n.553A>C
ENST00000690145.1:c.1943A>C ENSP00000508818.1:p.Glu648Ala
ENST00000690242.1:c.1943A>C ENSP00000510090.1:p.Glu648Ala
ENST00000690828.1:n.2099A>C
ENST00000691385.1:n.1221A>C
ENST00000691426.1:n.174A>C
ENST00000691468.1:c.1943A>C ENSP00000509011.1:p.Glu648Ala
ENST00000692304.1:c.1943A>C ENSP00000508427.1:p.Glu648Ala
ENST00000692864.1:c.*2277A>C ENSP00000510321.1:n.*2277A>C
ENST00000693324.1:c.1943A>C ENSP00000508643.1:p.Glu648Ala
ENST00000374080.8:c.1943A>C MANE Select ENSP00000363193.3:p.Glu648Ala
ENST00000333646.10:c.1484A>C ENSP00000333125.7:p.Glu495Ala
ENST00000374080.7:c.1943A>C ENSP00000363193.3:p.Glu648Ala
ENST00000374102.5:c.1943A>C ENSP00000363215.1:p.Glu648Ala
NM_005120.2:c.1943A>C NP_005111.2:p.Glu648Ala
XM_005262317.1:c.1943A>C XP_005262374.1:p.Glu648Ala
XM_005262319.1:c.1943A>C XP_005262376.1:p.Glu648Ala
NM_005120.3:c.1943A>C MANE Select NP_005111.2:p.Glu648Ala