Canonical Allele Identifier: CA516819660

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132536G>A , CM000685.2:g.71132536G>A	GRCh38
NC_000023.10:g.70352386G>A , CM000685.1:g.70352386G>A	GRCh37
NC_000023.9:g.70269111G>A	NCBI36
NG_012808.1:g.18981G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.4413G>A MANE Select	NP_005111.2:p.Lys1471=
ENST00000374080.8:c.4413G>A MANE Select	ENSP00000363193.3:p.Lys1471=
NM_005120.2:c.4413G>A	NP_005111.2:p.Lys1471=
ENST00000333646.10:c.3954G>A	ENSP00000333125.7:p.Lys1318=
ENST00000333646.11:c.4293G>A	ENSP00000333125.8:p.Lys1431=
ENST00000374080.7:c.4413G>A	ENSP00000363193.3:p.Lys1471=
ENST00000374102.5:c.4413G>A	ENSP00000363215.1:p.Lys1471=
ENST00000374102.6:c.4413G>A	ENSP00000363215.2:p.Lys1471=
ENST00000685182.1:n.1216G>A
ENST00000685655.1:c.366G>A	ENSP00000509298.1:p.Lys122=
ENST00000686169.1:n.790G>A
ENST00000686548.1:c.*4309G>A	ENSP00000509582.1:n.*4309G>A
ENST00000687161.1:n.1128G>A
ENST00000687382.1:c.4413G>A	ENSP00000510724.1:p.Lys1471=
ENST00000687701.1:n.1042G>A
ENST00000688079.1:n.2408G>A
ENST00000688663.1:c.*1334G>A	ENSP00000509348.1:n.*1334G>A
ENST00000688881.1:n.1067G>A
ENST00000688993.1:n.784G>A
ENST00000689768.1:n.3023G>A
ENST00000690145.1:c.4413G>A	ENSP00000508818.1:p.Lys1471=
ENST00000690242.1:c.4413G>A	ENSP00000510090.1:p.Lys1471=
ENST00000690250.1:n.2082G>A
ENST00000690690.1:c.866G>A
ENST00000690828.1:n.4669G>A
ENST00000691113.1:c.2892G>A	ENSP00000509755.1:n.2892G>A
ENST00000691426.1:n.3712G>A
ENST00000691468.1:c.4362G>A	ENSP00000509011.1:p.Lys1454=
ENST00000691909.1:n.1133G>A
ENST00000692304.1:c.4413G>A	ENSP00000508427.1:p.Lys1471=
ENST00000692893.1:n.1722G>A
ENST00000692964.1:n.1247G>A
ENST00000693050.1:n.1090G>A
ENST00000693324.1:c.4377G>A	ENSP00000508643.1:p.Lys1459=
ENST00000693391.1:c.2358G>A	ENSP00000509563.1:p.Lys786=
XM_005262317.1:c.4413G>A	XP_005262374.1:p.Lys1471=
XM_005262319.1:c.4413G>A	XP_005262376.1:p.Lys1471=