Canonical Allele Identifier: CA413542657

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71141369A>G , CM000685.2:g.71141369A>G	GRCh38
NC_000023.10:g.70361219A>G , CM000685.1:g.70361219A>G	GRCh37
NC_000023.9:g.70277944A>G	NCBI36
NG_012808.1:g.27814A>G
NG_015874.1:g.1539A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.6407A>G MANE Select	NP_005111.2:p.Gln2136Arg
ENST00000374080.8:c.6407A>G MANE Select	ENSP00000363193.3:p.Gln2136Arg
NM_005120.2:c.6407A>G	NP_005111.2:p.Gln2136Arg
ENST00000333646.10:c.5957A>G	ENSP00000333125.7:p.Gln1986Arg
ENST00000333646.11:c.6287A>G	ENSP00000333125.8:p.Gln2096Arg
ENST00000374080.7:c.6407A>G	ENSP00000363193.3:p.Gln2136Arg
ENST00000374102.5:c.6404A>G	ENSP00000363215.1:p.Gln2135Arg
ENST00000374102.6:c.6416A>G	ENSP00000363215.2:p.Gln2139Arg
ENST00000444034.2:c.1379A>G	ENSP00000404373.2:p.Gln460Arg
ENST00000685182.1:n.3105A>G
ENST00000686169.1:n.2793A>G
ENST00000686548.1:c.*6312A>G	ENSP00000509582.1:n.*6312A>G
ENST00000687161.1:n.3122A>G
ENST00000687382.1:c.6332A>G	ENSP00000510724.1:p.Gln2111Arg
ENST00000687701.1:n.3166A>G
ENST00000687973.1:n.1080A>G
ENST00000688079.1:n.4402A>G
ENST00000688231.1:c.451A>G
ENST00000688508.1:n.1967A>G
ENST00000688774.1:c.1185A>G	ENSP00000508823.1:n.1185A>G
ENST00000689489.1:n.726A>G
ENST00000689768.1:n.5026A>G
ENST00000690145.1:c.6413A>G	ENSP00000508818.1:p.Gln2138Arg
ENST00000690242.1:c.6341A>G	ENSP00000510090.1:p.Gln2114Arg
ENST00000690250.1:n.4010A>G
ENST00000690523.1:n.2517A>G
ENST00000690807.1:c.1183A>G	ENSP00000510476.1:n.1183A>G
ENST00000690878.1:c.438A>G
ENST00000691113.1:c.4886A>G	ENSP00000509755.1:n.4886A>G
ENST00000691426.1:n.5706A>G
ENST00000691909.1:n.3127A>G
ENST00000692304.1:c.6404A>G	ENSP00000508427.1:p.Gln2135Arg
ENST00000692893.1:n.3725A>G
ENST00000693391.1:c.4358A>G	ENSP00000509563.1:p.Gln1453Arg
XM_005262317.1:c.6416A>G	XP_005262374.1:p.Gln2139Arg
XM_005262319.1:c.6341A>G	XP_005262376.1:p.Gln2114Arg