Canonical Allele Identifier: CA413526496

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132465G>T , CM000685.2:g.71132465G>T	GRCh38
NC_000023.10:g.70352315G>T , CM000685.1:g.70352315G>T	GRCh37
NC_000023.9:g.70269040G>T	NCBI36
NG_012808.1:g.18910G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.4342G>T MANE Select	NP_005111.2:p.Gly1448Trp
ENST00000374080.8:c.4342G>T MANE Select	ENSP00000363193.3:p.Gly1448Trp
NM_005120.2:c.4342G>T	NP_005111.2:p.Gly1448Trp
ENST00000333646.10:c.3883G>T	ENSP00000333125.7:p.Gly1295Trp
ENST00000333646.11:c.4222G>T	ENSP00000333125.8:p.Gly1408Trp
ENST00000374080.7:c.4342G>T	ENSP00000363193.3:p.Gly1448Trp
ENST00000374102.5:c.4342G>T	ENSP00000363215.1:p.Gly1448Trp
ENST00000374102.6:c.4342G>T	ENSP00000363215.2:p.Gly1448Trp
ENST00000685182.1:n.1145G>T
ENST00000685655.1:c.295G>T	ENSP00000509298.1:p.Gly99Trp
ENST00000686169.1:n.719G>T
ENST00000686548.1:c.*4238G>T	ENSP00000509582.1:n.*4238G>T
ENST00000687161.1:n.1057G>T
ENST00000687382.1:c.4342G>T	ENSP00000510724.1:p.Gly1448Trp
ENST00000687701.1:n.971G>T
ENST00000688079.1:n.2337G>T
ENST00000688663.1:c.*1263G>T	ENSP00000509348.1:n.*1263G>T
ENST00000688881.1:n.996G>T
ENST00000688993.1:n.713G>T
ENST00000689768.1:n.2952G>T
ENST00000690145.1:c.4342G>T	ENSP00000508818.1:p.Gly1448Trp
ENST00000690242.1:c.4342G>T	ENSP00000510090.1:p.Gly1448Trp
ENST00000690250.1:n.2011G>T
ENST00000690690.1:c.795G>T
ENST00000690828.1:n.4598G>T
ENST00000691113.1:c.2821G>T	ENSP00000509755.1:n.2821G>T
ENST00000691426.1:n.3641G>T
ENST00000691468.1:c.4291G>T	ENSP00000509011.1:p.Gly1431Trp
ENST00000691909.1:n.1062G>T
ENST00000692304.1:c.4342G>T	ENSP00000508427.1:p.Gly1448Trp
ENST00000692893.1:n.1651G>T
ENST00000692964.1:n.1176G>T
ENST00000693050.1:n.1019G>T
ENST00000693324.1:c.4306G>T	ENSP00000508643.1:p.Gly1436Trp
ENST00000693391.1:c.2287G>T	ENSP00000509563.1:p.Gly763Trp
XM_005262317.1:c.4342G>T	XP_005262374.1:p.Gly1448Trp
XM_005262319.1:c.4342G>T	XP_005262376.1:p.Gly1448Trp