Canonical Allele Identifier: CA153670

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93807533A>G , CM000673.2:g.93807533A>G	GRCh38
NC_000011.9:g.93540699A>G , CM000673.1:g.93540699A>G	GRCh37
NC_000011.8:g.93180347A>G	NCBI36
NG_028028.1:g.28295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251871.9:c.1482A>G MANE Select	ENSP00000251871.3:p.Gln494=
ENST00000507258.4:n.3195A>G
ENST00000525026.6:n.1806A>G
ENST00000525613.2:n.1328A>G
ENST00000529626.2:n.1485A>G
ENST00000533133.6:c.1467-2184A>G	ENSP00000433090.2:n.1467-2184A>G
ENST00000638270.1:n.1433A>G
ENST00000638487.1:c.*808A>G	ENSP00000492294.1:n.*808A>G
ENST00000638518.1:c.507A>G
ENST00000638767.1:c.2043A>G	ENSP00000492220.1:p.Gln681=
ENST00000638790.1:c.1325A>G	ENSP00000491457.1:n.1325A>G
ENST00000639189.1:c.*136A>G	ENSP00000491770.1:n.*136A>G
ENST00000639457.1:c.*485A>G	ENSP00000492391.1:n.*485A>G
ENST00000639523.1:c.1417A>G
ENST00000639596.1:c.*136A>G	ENSP00000491918.1:n.*136A>G
ENST00000639724.1:c.1482A>G	ENSP00000492625.1:p.Gln494=
ENST00000640027.1:c.1499A>G	ENSP00000492872.1:p.Asn500Ser
ENST00000640077.1:c.1490A>G	ENSP00000490968.1:n.1490A>G
ENST00000640411.1:n.440A>G
ENST00000640451.1:c.1329A>G	ENSP00000492530.1:p.Gln443=
ENST00000640521.1:c.1344A>G	ENSP00000491108.1:p.Gln448=
ENST00000640583.1:n.2045A>G
ENST00000640804.1:n.1855A>G
ENST00000251871.7:c.1482A>G	ENSP00000251871.3:p.Gln494=
ENST00000525613.1:n.1907A>G
ENST00000531920.5:n.783A>G
ENST00000533133.5:c.*1009-4291A>G	ENSP00000433090.1:n.*1009-4291A>G
ENST00000533367.5:n.535A>G
NM_004268.4:c.1482A>G	NP_004259.3:p.Gln494=
XM_011543068.1:c.1482A>G	XP_011541370.1:p.Gln494=
XR_247218.1:n.1531A>G
XR_947872.1:n.1733A>G
NM_004268.5:c.1482A>G MANE Select	NP_004259.3:p.Gln494=