Canonical Allele Identifier: CA13489558

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93807748T>G , CM000673.2:g.93807748T>G	GRCh38
NC_000011.9:g.93540914T>G , CM000673.1:g.93540914T>G	GRCh37
NC_000011.8:g.93180562T>G	NCBI36
NG_028028.1:g.28510T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004268.5:c.1584+113T>G MANE Select	NP_004259.3:n.1584+113T>G
ENST00000251871.9:c.1584+113T>G MANE Select	ENSP00000251871.3:n.1584+113T>G
NM_004268.4:c.1584+113T>G	NP_004259.3:n.1584+113T>G
ENST00000251871.7:c.1584+113T>G	ENSP00000251871.3:n.1584+113T>G
ENST00000507258.4:n.3297+113T>G
ENST00000525026.6:n.1908+113T>G
ENST00000525613.1:n.2009+113T>G
ENST00000525613.2:n.1430+113T>G
ENST00000529626.2:n.1587+113T>G
ENST00000531920.5:n.885+113T>G
ENST00000533133.5:c.*1009-4076T>G	ENSP00000433090.1:n.*1009-4076T>G
ENST00000533133.6:c.1467-1969T>G	ENSP00000433090.2:n.1467-1969T>G
ENST00000533367.5:n.637+113T>G
ENST00000638270.1:n.1535+113T>G
ENST00000638487.1:c.*910+113T>G	ENSP00000492294.1:n.*910+113T>G
ENST00000638518.1:c.609+113T>G
ENST00000638767.1:c.2145+113T>G	ENSP00000492220.1:n.2145+113T>G
ENST00000638790.1:c.1427+113T>G	ENSP00000491457.1:n.1427+113T>G
ENST00000639189.1:c.*238+113T>G	ENSP00000491770.1:n.*238+113T>G
ENST00000639457.1:c.*587+113T>G	ENSP00000492391.1:n.*587+113T>G
ENST00000639523.1:c.1519+113T>G
ENST00000639596.1:c.*238+113T>G	ENSP00000491918.1:n.*238+113T>G
ENST00000639724.1:c.1584+113T>G	ENSP00000492625.1:n.1584+113T>G
ENST00000640027.1:c.*211T>G	ENSP00000492872.1:n.*211T>G
ENST00000640077.1:c.1592+113T>G	ENSP00000490968.1:n.1592+113T>G
ENST00000640411.1:n.542+113T>G
ENST00000640451.1:c.1431+113T>G	ENSP00000492530.1:n.1431+113T>G
ENST00000640521.1:c.1446+113T>G	ENSP00000491108.1:n.1446+113T>G
ENST00000640583.1:n.2147+113T>G
ENST00000640804.1:n.1957+113T>G
XM_011543068.1:c.1584+113T>G	XP_011541370.1:n.1584+113T>G
XR_247218.1:n.1633+113T>G
XR_947872.1:n.1835+113T>G