Canonical Allele Identifier: CA16609208
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71119490T>G , CM000685.2:g.71119490T>G GRCh38
NC_000023.10:g.70339340T>G , CM000685.1:g.70339340T>G GRCh37
NC_000023.9:g.70256065T>G NCBI36
NG_012808.1:g.5935T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.204+13T>G ENSP00000333125.8:n.204+13T>G
ENST00000374102.6:c.204+13T>G ENSP00000363215.2:n.204+13T>G
ENST00000429213.3:c.204+13T>G ENSP00000399084.2:n.204+13T>G
ENST00000686548.1:c.*100+13T>G ENSP00000509582.1:n.*100+13T>G
ENST00000687382.1:c.204+13T>G ENSP00000510724.1:n.204+13T>G
ENST00000688663.1:c.204+13T>G ENSP00000509348.1:n.204+13T>G
ENST00000688718.1:n.140+13T>G
ENST00000689008.1:c.*100+13T>G ENSP00000509134.1:n.*100+13T>G
ENST00000690145.1:c.204+13T>G ENSP00000508818.1:n.204+13T>G
ENST00000690242.1:c.204+13T>G ENSP00000510090.1:n.204+13T>G
ENST00000690828.1:n.360+13T>G
ENST00000691468.1:c.204+13T>G ENSP00000509011.1:n.204+13T>G
ENST00000692304.1:c.204+13T>G ENSP00000508427.1:n.204+13T>G
ENST00000692864.1:c.*100+13T>G ENSP00000510321.1:n.*100+13T>G
ENST00000693324.1:c.204+13T>G ENSP00000508643.1:n.204+13T>G
ENST00000374080.8:c.204+13T>G MANE Select ENSP00000363193.3:n.204+13T>G
ENST00000333646.10:c.-256+13T>G ENSP00000333125.7:n.-256+13T>G
ENST00000374080.7:c.204+13T>G ENSP00000363193.3:n.204+13T>G
ENST00000374102.5:c.204+13T>G ENSP00000363215.1:n.204+13T>G
ENST00000429213.2:c.158+13T>G
NM_005120.2:c.204+13T>G NP_005111.2:n.204+13T>G
XM_005262317.1:c.204+13T>G XP_005262374.1:n.204+13T>G
XM_005262319.1:c.204+13T>G XP_005262376.1:n.204+13T>G
NM_005120.3:c.204+13T>G MANE Select NP_005111.2:n.204+13T>G