Canonical Allele Identifier: CA6232248

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93784637C>T , CM000673.2:g.93784637C>T	GRCh38
NC_000011.9:g.93517803C>T , CM000673.1:g.93517803C>T	GRCh37
NC_000011.8:g.93157451C>T	NCBI36
NG_028028.1:g.5399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251871.9:c.124C>T MANE Select	ENSP00000251871.3:p.Arg42Cys
ENST00000507258.4:n.212C>T
ENST00000525026.6:n.345C>T
ENST00000528786.2:c.64C>T	ENSP00000433626.2:p.Arg22Cys
ENST00000533133.6:c.124C>T	ENSP00000433090.2:p.Arg42Cys
ENST00000638294.1:c.124C>T	ENSP00000491675.1:p.Arg42Cys
ENST00000638487.1:c.124C>T	ENSP00000492294.1:p.Arg42Cys
ENST00000638518.1:c.60C>T
ENST00000638767.1:c.685C>T	ENSP00000492220.1:p.Arg229Cys
ENST00000639189.1:c.124C>T	ENSP00000491770.1:p.Arg42Cys
ENST00000639457.1:c.124C>T	ENSP00000492391.1:p.Arg42Cys
ENST00000639596.1:c.124C>T	ENSP00000491918.1:p.Arg42Cys
ENST00000639724.1:c.124C>T	ENSP00000492625.1:p.Arg42Cys
ENST00000640027.1:c.124C>T	ENSP00000492872.1:p.Arg42Cys
ENST00000640451.1:c.124C>T	ENSP00000492530.1:p.Arg42Cys
ENST00000640473.1:c.124C>T	ENSP00000491371.1:p.Arg42Cys
ENST00000640521.1:c.124C>T	ENSP00000491108.1:p.Arg42Cys
ENST00000640583.1:n.411C>T
ENST00000640804.1:n.411C>T
ENST00000251871.7:c.124C>T	ENSP00000251871.3:p.Arg42Cys
ENST00000530819.1:c.124C>T	ENSP00000434459.1:p.Arg42Cys
ENST00000533133.5:c.124C>T	ENSP00000433090.1:p.Arg42Cys
ENST00000533359.5:c.124C>T	ENSP00000431524.1:p.Arg42Cys
NM_004268.4:c.124C>T	NP_004259.3:p.Arg42Cys
XM_011543068.1:c.124C>T	XP_011541370.1:p.Arg42Cys
XR_247218.1:n.358C>T
XR_947872.1:n.358C>T
NM_004268.5:c.124C>T MANE Select	NP_004259.3:p.Arg42Cys