Canonical Allele Identifier: CA16608571

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71134816C>T , CM000685.2:g.71134816C>T	GRCh38
NC_000023.10:g.70354666C>T , CM000685.1:g.70354666C>T	GRCh37
NC_000023.9:g.70271391C>T	NCBI36
NG_012808.1:g.21261C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.4831C>T MANE Select	NP_005111.2:p.Arg1611Cys
ENST00000374080.8:c.4831C>T MANE Select	ENSP00000363193.3:p.Arg1611Cys
NM_005120.2:c.4831C>T	NP_005111.2:p.Arg1611Cys
ENST00000333646.10:c.4372C>T	ENSP00000333125.7:p.Arg1458Cys
ENST00000333646.11:c.4711C>T	ENSP00000333125.8:p.Arg1571Cys
ENST00000374080.7:c.4831C>T	ENSP00000363193.3:p.Arg1611Cys
ENST00000374102.5:c.4831C>T	ENSP00000363215.1:p.Arg1611Cys
ENST00000374102.6:c.4831C>T	ENSP00000363215.2:p.Arg1611Cys
ENST00000685182.1:n.1634C>T
ENST00000685789.1:c.194C>T	ENSP00000509496.1:n.194C>T
ENST00000686169.1:n.1208C>T
ENST00000686548.1:c.*4727C>T	ENSP00000509582.1:n.*4727C>T
ENST00000687161.1:n.1546C>T
ENST00000687382.1:c.4831C>T	ENSP00000510724.1:p.Arg1611Cys
ENST00000687701.1:n.1460C>T
ENST00000688079.1:n.2826C>T
ENST00000688508.1:n.382C>T
ENST00000688663.1:c.*1752C>T	ENSP00000509348.1:n.*1752C>T
ENST00000688881.1:n.1485C>T
ENST00000688993.1:n.1202C>T
ENST00000689768.1:n.3441C>T
ENST00000690145.1:c.4831C>T	ENSP00000508818.1:p.Arg1611Cys
ENST00000690242.1:c.4831C>T	ENSP00000510090.1:p.Arg1611Cys
ENST00000690250.1:n.2500C>T
ENST00000690828.1:n.5087C>T
ENST00000691113.1:c.3310C>T	ENSP00000509755.1:n.3310C>T
ENST00000691426.1:n.4130C>T
ENST00000691468.1:c.4780C>T	ENSP00000509011.1:p.Arg1594Cys
ENST00000691909.1:n.1551C>T
ENST00000692304.1:c.4831C>T	ENSP00000508427.1:p.Arg1611Cys
ENST00000692893.1:n.2140C>T
ENST00000692964.1:n.1665C>T
ENST00000693324.1:c.4795C>T	ENSP00000508643.1:p.Arg1599Cys
ENST00000693391.1:c.2776C>T	ENSP00000509563.1:p.Arg926Cys
XM_005262317.1:c.4831C>T	XP_005262374.1:p.Arg1611Cys
XM_005262319.1:c.4831C>T	XP_005262376.1:p.Arg1611Cys