Canonical Allele Identifier: CA413519185

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71128655C>T , CM000685.2:g.71128655C>T	GRCh38
NC_000023.10:g.70348505C>T , CM000685.1:g.70348505C>T	GRCh37
NC_000023.9:g.70265230C>T	NCBI36
NG_012808.1:g.15100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.3412C>T MANE Select	NP_005111.2:p.Arg1138Trp
ENST00000374080.8:c.3412C>T MANE Select	ENSP00000363193.3:p.Arg1138Trp
NM_005120.2:c.3412C>T	NP_005111.2:p.Arg1138Trp
ENST00000333646.10:c.2953C>T	ENSP00000333125.7:p.Arg985Trp
ENST00000333646.11:c.3292C>T	ENSP00000333125.8:p.Arg1098Trp
ENST00000374080.7:c.3412C>T	ENSP00000363193.3:p.Arg1138Trp
ENST00000374102.5:c.3412C>T	ENSP00000363215.1:p.Arg1138Trp
ENST00000374102.6:c.3412C>T	ENSP00000363215.2:p.Arg1138Trp
ENST00000489199.1:n.184C>T
ENST00000489199.2:c.431C>T
ENST00000686548.1:c.*3308C>T	ENSP00000509582.1:n.*3308C>T
ENST00000687382.1:c.3412C>T	ENSP00000510724.1:p.Arg1138Trp
ENST00000688079.1:n.1407C>T
ENST00000688663.1:c.*198C>T	ENSP00000509348.1:n.*198C>T
ENST00000689768.1:n.2022C>T
ENST00000690145.1:c.3412C>T	ENSP00000508818.1:p.Arg1138Trp
ENST00000690242.1:c.3412C>T	ENSP00000510090.1:p.Arg1138Trp
ENST00000690250.1:n.414C>T
ENST00000690828.1:n.3568C>T
ENST00000691113.1:c.1891C>T	ENSP00000509755.1:n.1891C>T
ENST00000691426.1:n.2146C>T
ENST00000691468.1:c.3361C>T	ENSP00000509011.1:p.Arg1121Trp
ENST00000692304.1:c.3412C>T	ENSP00000508427.1:p.Arg1138Trp
ENST00000692893.1:n.326C>T
ENST00000693324.1:c.3376C>T	ENSP00000508643.1:p.Arg1126Trp
ENST00000693391.1:c.1357C>T	ENSP00000509563.1:p.Arg453Trp
XM_005262317.1:c.3412C>T	XP_005262374.1:p.Arg1138Trp
XM_005262319.1:c.3412C>T	XP_005262376.1:p.Arg1138Trp