Canonical Allele Identifier: CA231292

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93796468T>A , CM000673.2:g.93796468T>A	GRCh38
NC_000011.9:g.93529634T>A , CM000673.1:g.93529634T>A	GRCh37
NC_000011.8:g.93169282T>A	NCBI36
NG_028028.1:g.17230T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004268.5:c.1071T>A MANE Select	NP_004259.3:p.Phe357Leu
ENST00000251871.9:c.1071T>A MANE Select	ENSP00000251871.3:p.Phe357Leu
NM_004268.4:c.1071T>A	NP_004259.3:p.Phe357Leu
ENST00000251871.7:c.1071T>A	ENSP00000251871.3:p.Phe357Leu
ENST00000507258.3:n.402T>A
ENST00000507258.4:n.2784T>A
ENST00000525026.5:n.2526T>A
ENST00000525026.6:n.1378T>A
ENST00000529626.2:n.1074T>A
ENST00000531920.5:n.372T>A
ENST00000531920.6:n.372T>A
ENST00000533133.5:c.*356T>A	ENSP00000433090.1:n.*356T>A
ENST00000533133.6:c.1071T>A	ENSP00000433090.2:p.Phe357Leu
ENST00000533367.5:n.124T>A
ENST00000533367.6:n.109T>A
ENST00000638487.1:c.*397T>A	ENSP00000492294.1:n.*397T>A
ENST00000638518.1:c.354-5367T>A
ENST00000638767.1:c.1632T>A	ENSP00000492220.1:p.Phe544Leu
ENST00000638790.1:c.1099T>A	ENSP00000491457.1:n.1099T>A
ENST00000639189.1:c.1071T>A	ENSP00000491770.1:p.Phe357Leu
ENST00000639457.1:c.*397T>A	ENSP00000492391.1:n.*397T>A
ENST00000639523.1:c.1006T>A
ENST00000639596.1:c.1071T>A	ENSP00000491918.1:p.Phe357Leu
ENST00000639724.1:c.1071T>A	ENSP00000492625.1:p.Phe357Leu
ENST00000640027.1:c.1071T>A	ENSP00000492872.1:p.Phe357Leu
ENST00000640077.1:c.554-469T>A	ENSP00000490968.1:n.554-469T>A
ENST00000640451.1:c.918T>A	ENSP00000492530.1:p.Phe306Leu
ENST00000640473.1:c.251-1067T>A	ENSP00000491371.1:n.251-1067T>A
ENST00000640521.1:c.1071T>A	ENSP00000491108.1:p.Phe357Leu
ENST00000640583.1:n.1634T>A
ENST00000640804.1:n.1444T>A
XM_011543068.1:c.1071T>A	XP_011541370.1:p.Phe357Leu
XR_247218.1:n.1305T>A
XR_947872.1:n.1305T>A