Canonical Allele Identifier: CA10444404

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71127061C>T , CM000685.2:g.71127061C>T	GRCh38
NC_000023.10:g.70346911C>T , CM000685.1:g.70346911C>T	GRCh37
NC_000023.9:g.70263636C>T	NCBI36
NG_012808.1:g.13506C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.2778C>T MANE Select	NP_005111.2:p.Ile926=
ENST00000374080.8:c.2778C>T MANE Select	ENSP00000363193.3:p.Ile926=
NM_005120.2:c.2778C>T	NP_005111.2:p.Ile926=
ENST00000333646.10:c.2319C>T	ENSP00000333125.7:p.Ile773=
ENST00000333646.11:c.2658C>T	ENSP00000333125.8:p.Ile886=
ENST00000374080.7:c.2778C>T	ENSP00000363193.3:p.Ile926=
ENST00000374102.5:c.2778C>T	ENSP00000363215.1:p.Ile926=
ENST00000374102.6:c.2778C>T	ENSP00000363215.2:p.Ile926=
ENST00000462984.1:n.204C>T
ENST00000462984.2:n.1107C>T
ENST00000471663.5:n.317C>T
ENST00000686548.1:c.*2674C>T	ENSP00000509582.1:n.*2674C>T
ENST00000687382.1:c.2778C>T	ENSP00000510724.1:p.Ile926=
ENST00000688079.1:n.348C>T
ENST00000688663.1:c.2778C>T	ENSP00000509348.1:p.Ile926=
ENST00000689768.1:n.1388C>T
ENST00000690145.1:c.2778C>T	ENSP00000508818.1:p.Ile926=
ENST00000690242.1:c.2778C>T	ENSP00000510090.1:p.Ile926=
ENST00000690828.1:n.2934C>T
ENST00000691113.1:c.723C>T	ENSP00000509755.1:p.Ile241=
ENST00000691426.1:n.1009C>T
ENST00000691468.1:c.2727C>T	ENSP00000509011.1:p.Ile909=
ENST00000692304.1:c.2778C>T	ENSP00000508427.1:p.Ile926=
ENST00000693324.1:c.2697C>T	ENSP00000508643.1:p.Ile899=
ENST00000693391.1:c.723C>T	ENSP00000509563.1:p.Ile241=
XM_005262317.1:c.2778C>T	XP_005262374.1:p.Ile926=
XM_005262319.1:c.2778C>T	XP_005262376.1:p.Ile926=