Canonical Allele Identifier: CA208772

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93807551G>A , CM000673.2:g.93807551G>A	GRCh38
NC_000011.9:g.93540717G>A , CM000673.1:g.93540717G>A	GRCh37
NC_000011.8:g.93180365G>A	NCBI36
NG_028028.1:g.28313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251871.9:c.1500G>A MANE Select	ENSP00000251871.3:p.Glu500=
ENST00000507258.4:n.3213G>A
ENST00000525026.6:n.1824G>A
ENST00000525613.2:n.1346G>A
ENST00000529626.2:n.1503G>A
ENST00000533133.6:c.1467-2166G>A	ENSP00000433090.2:n.1467-2166G>A
ENST00000638270.1:n.1451G>A
ENST00000638487.1:c.*826G>A	ENSP00000492294.1:n.*826G>A
ENST00000638518.1:c.525G>A
ENST00000638767.1:c.2061G>A	ENSP00000492220.1:p.Glu687=
ENST00000638790.1:c.1343G>A	ENSP00000491457.1:n.1343G>A
ENST00000639189.1:c.*154G>A	ENSP00000491770.1:n.*154G>A
ENST00000639457.1:c.*503G>A	ENSP00000492391.1:n.*503G>A
ENST00000639523.1:c.1435G>A
ENST00000639596.1:c.*154G>A	ENSP00000491918.1:n.*154G>A
ENST00000639724.1:c.1500G>A	ENSP00000492625.1:p.Glu500=
ENST00000640027.1:c.*14G>A	ENSP00000492872.1:n.*14G>A
ENST00000640077.1:c.1508G>A	ENSP00000490968.1:n.1508G>A
ENST00000640411.1:n.458G>A
ENST00000640451.1:c.1347G>A	ENSP00000492530.1:p.Glu449=
ENST00000640521.1:c.1362G>A	ENSP00000491108.1:p.Glu454=
ENST00000640583.1:n.2063G>A
ENST00000640804.1:n.1873G>A
ENST00000251871.7:c.1500G>A	ENSP00000251871.3:p.Glu500=
ENST00000525613.1:n.1925G>A
ENST00000531920.5:n.801G>A
ENST00000533133.5:c.*1009-4273G>A	ENSP00000433090.1:n.*1009-4273G>A
ENST00000533367.5:n.553G>A
NM_004268.4:c.1500G>A	NP_004259.3:p.Glu500=
XM_011543068.1:c.1500G>A	XP_011541370.1:p.Glu500=
XR_247218.1:n.1549G>A
XR_947872.1:n.1751G>A
NM_004268.5:c.1500G>A MANE Select	NP_004259.3:p.Glu500=