Canonical Allele Identifier: CA6232301

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93788075A>C , CM000673.2:g.93788075A>C	GRCh38
NC_000011.9:g.93521241A>C , CM000673.1:g.93521241A>C	GRCh37
NC_000011.8:g.93160889A>C	NCBI36
NG_028028.1:g.8837A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004268.5:c.325A>C MANE Select	NP_004259.3:p.Met109Leu
ENST00000251871.9:c.325A>C MANE Select	ENSP00000251871.3:p.Met109Leu
NM_004268.4:c.325A>C	NP_004259.3:p.Met109Leu
ENST00000251871.7:c.325A>C	ENSP00000251871.3:p.Met109Leu
ENST00000507258.4:n.413A>C
ENST00000525026.6:n.546A>C
ENST00000528786.1:c.1A>C	ENSP00000433626.1:p.Met1Leu
ENST00000528786.2:c.191-2499A>C	ENSP00000433626.2:n.191-2499A>C
ENST00000530819.1:c.325A>C	ENSP00000434459.1:p.Met109Leu
ENST00000533133.5:c.325A>C	ENSP00000433090.1:p.Met109Leu
ENST00000533133.6:c.325A>C	ENSP00000433090.2:p.Met109Leu
ENST00000533359.5:c.325A>C	ENSP00000431524.1:p.Met109Leu
ENST00000638294.1:c.250+3312A>C	ENSP00000491675.1:n.250+3312A>C
ENST00000638487.1:c.325A>C	ENSP00000492294.1:p.Met109Leu
ENST00000638518.1:c.261A>C
ENST00000638767.1:c.886A>C	ENSP00000492220.1:p.Met296Leu
ENST00000638790.1:c.163A>C	ENSP00000491457.1:p.Met55Leu
ENST00000639189.1:c.325A>C	ENSP00000491770.1:p.Met109Leu
ENST00000639457.1:c.325A>C	ENSP00000492391.1:p.Met109Leu
ENST00000639523.1:c.260A>C
ENST00000639596.1:c.325A>C	ENSP00000491918.1:p.Met109Leu
ENST00000639724.1:c.325A>C	ENSP00000492625.1:p.Met109Leu
ENST00000640027.1:c.325A>C	ENSP00000492872.1:p.Met109Leu
ENST00000640077.1:c.19A>C	ENSP00000490968.1:p.Met7Leu
ENST00000640451.1:c.325A>C	ENSP00000492530.1:p.Met109Leu
ENST00000640473.1:c.250+3312A>C	ENSP00000491371.1:n.250+3312A>C
ENST00000640521.1:c.325A>C	ENSP00000491108.1:p.Met109Leu
ENST00000640583.1:n.612A>C
ENST00000640804.1:n.612A>C
XM_011543068.1:c.325A>C	XP_011541370.1:p.Met109Leu
XR_247218.1:n.559A>C
XR_947872.1:n.559A>C