Canonical Allele Identifier: CA6232639

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93807544G>A , CM000673.2:g.93807544G>A	GRCh38
NC_000011.9:g.93540710G>A , CM000673.1:g.93540710G>A	GRCh37
NC_000011.8:g.93180358G>A	NCBI36
NG_028028.1:g.28306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251871.9:c.1493G>A MANE Select	ENSP00000251871.3:p.Gly498Glu
ENST00000507258.4:n.3206G>A
ENST00000525026.6:n.1817G>A
ENST00000525613.2:n.1339G>A
ENST00000529626.2:n.1496G>A
ENST00000533133.6:c.1467-2173G>A	ENSP00000433090.2:n.1467-2173G>A
ENST00000638270.1:n.1444G>A
ENST00000638487.1:c.*819G>A	ENSP00000492294.1:n.*819G>A
ENST00000638518.1:c.518G>A
ENST00000638767.1:c.2054G>A	ENSP00000492220.1:p.Gly685Glu
ENST00000638790.1:c.1336G>A	ENSP00000491457.1:n.1336G>A
ENST00000639189.1:c.*147G>A	ENSP00000491770.1:n.*147G>A
ENST00000639457.1:c.*496G>A	ENSP00000492391.1:n.*496G>A
ENST00000639523.1:c.1428G>A
ENST00000639596.1:c.*147G>A	ENSP00000491918.1:n.*147G>A
ENST00000639724.1:c.1493G>A	ENSP00000492625.1:p.Gly498Glu
ENST00000640027.1:c.*7G>A	ENSP00000492872.1:n.*7G>A
ENST00000640077.1:c.1501G>A	ENSP00000490968.1:n.1501G>A
ENST00000640411.1:n.451G>A
ENST00000640451.1:c.1340G>A	ENSP00000492530.1:p.Gly447Glu
ENST00000640521.1:c.1355G>A	ENSP00000491108.1:p.Gly452Glu
ENST00000640583.1:n.2056G>A
ENST00000640804.1:n.1866G>A
ENST00000251871.7:c.1493G>A	ENSP00000251871.3:p.Gly498Glu
ENST00000525613.1:n.1918G>A
ENST00000531920.5:n.794G>A
ENST00000533133.5:c.*1009-4280G>A	ENSP00000433090.1:n.*1009-4280G>A
ENST00000533367.5:n.546G>A
NM_004268.4:c.1493G>A	NP_004259.3:p.Gly498Glu
XM_011543068.1:c.1493G>A	XP_011541370.1:p.Gly498Glu
XR_247218.1:n.1542G>A
XR_947872.1:n.1744G>A
NM_004268.5:c.1493G>A MANE Select	NP_004259.3:p.Gly498Glu