Canonical Allele Identifier: CA285642

Gene: MED12

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71130097A>C , CM000685.2:g.71130097A>C	GRCh38
NC_000023.10:g.70349947A>C , CM000685.1:g.70349947A>C	GRCh37
NC_000023.9:g.70266672A>C	NCBI36
NG_012808.1:g.16542A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333646.11:c.3810A>C	ENSP00000333125.8:p.Pro1270=
ENST00000374102.6:c.3930A>C	ENSP00000363215.2:p.Pro1310=
ENST00000489199.2:c.1084A>C
ENST00000686548.1:c.*3826A>C	ENSP00000509582.1:n.*3826A>C
ENST00000687161.1:n.645A>C
ENST00000687382.1:c.3930A>C	ENSP00000510724.1:p.Pro1310=
ENST00000688079.1:n.1925A>C
ENST00000688663.1:c.*851A>C	ENSP00000509348.1:n.*851A>C
ENST00000689768.1:n.2540A>C
ENST00000690145.1:c.3930A>C	ENSP00000508818.1:p.Pro1310=
ENST00000690242.1:c.3930A>C	ENSP00000510090.1:p.Pro1310=
ENST00000690250.1:n.1599A>C
ENST00000690690.1:c.455A>C
ENST00000690828.1:n.4186A>C
ENST00000691113.1:c.2409A>C	ENSP00000509755.1:n.2409A>C
ENST00000691283.1:c.478A>C
ENST00000691426.1:n.3059A>C
ENST00000691468.1:c.3879A>C	ENSP00000509011.1:p.Pro1293=
ENST00000692304.1:c.3930A>C	ENSP00000508427.1:p.Pro1310=
ENST00000692893.1:n.1239A>C
ENST00000693324.1:c.3894A>C	ENSP00000508643.1:p.Pro1298=
ENST00000693391.1:c.1875A>C	ENSP00000509563.1:p.Pro625=
ENST00000374080.8:c.3930A>C MANE Select	ENSP00000363193.3:p.Pro1310=
ENST00000333646.10:c.3471A>C	ENSP00000333125.7:p.Pro1157=
ENST00000374080.7:c.3930A>C	ENSP00000363193.3:p.Pro1310=
ENST00000374102.5:c.3930A>C	ENSP00000363215.1:p.Pro1310=
NM_005120.2:c.3930A>C	NP_005111.2:p.Pro1310=
XM_005262317.1:c.3930A>C	XP_005262374.1:p.Pro1310=
XM_005262319.1:c.3930A>C	XP_005262376.1:p.Pro1310=
NM_005120.3:c.3930A>C MANE Select	NP_005111.2:p.Pro1310=