Canonical Allele Identifier: CA413500038

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71120095A>G , CM000685.2:g.71120095A>G	GRCh38
NC_000023.10:g.70339945A>G , CM000685.1:g.70339945A>G	GRCh37
NC_000023.9:g.70256670A>G	NCBI36
NG_012808.1:g.6540A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.478A>G	ENSP00000333125.8:p.Ile160Val
ENST00000374102.6:c.478A>G	ENSP00000363215.2:p.Ile160Val
ENST00000429213.3:c.*227A>G	ENSP00000399084.2:n.*227A>G
ENST00000686548.1:c.*374A>G	ENSP00000509582.1:n.*374A>G
ENST00000687382.1:c.478A>G	ENSP00000510724.1:p.Ile160Val
ENST00000688663.1:c.478A>G	ENSP00000509348.1:p.Ile160Val
ENST00000688718.1:n.414A>G
ENST00000689008.1:c.*374A>G	ENSP00000509134.1:n.*374A>G
ENST00000690145.1:c.478A>G	ENSP00000508818.1:p.Ile160Val
ENST00000690242.1:c.478A>G	ENSP00000510090.1:p.Ile160Val
ENST00000690828.1:n.634A>G
ENST00000691468.1:c.478A>G	ENSP00000509011.1:p.Ile160Val
ENST00000692304.1:c.478A>G	ENSP00000508427.1:p.Ile160Val
ENST00000692864.1:c.*374A>G	ENSP00000510321.1:n.*374A>G
ENST00000693324.1:c.478A>G	ENSP00000508643.1:p.Ile160Val
ENST00000374080.8:c.478A>G MANE Select	ENSP00000363193.3:p.Ile160Val
ENST00000333646.10:c.19A>G	ENSP00000333125.7:p.Ile7Val
ENST00000374080.7:c.478A>G	ENSP00000363193.3:p.Ile160Val
ENST00000374102.5:c.478A>G	ENSP00000363215.1:p.Ile160Val
NM_005120.2:c.478A>G	NP_005111.2:p.Ile160Val
XM_005262317.1:c.478A>G	XP_005262374.1:p.Ile160Val
XM_005262319.1:c.478A>G	XP_005262376.1:p.Ile160Val
NM_005120.3:c.478A>G MANE Select	NP_005111.2:p.Ile160Val