Canonical Allele Identifier: CA354960014

Gene: MED12L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151156271G>T , CM000665.2:g.151156271G>T	GRCh38
NC_000003.11:g.150874058G>T , CM000665.1:g.150874058G>T	GRCh37
NC_000003.10:g.152356748G>T	NCBI36
NG_021244.1:g.74383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685357.1:n.925G>T
ENST00000686666.1:c.562G>T	ENSP00000509482.1:p.Val188Leu
ENST00000687756.1:c.667G>T MANE Select	ENSP00000508695.1:p.Val223Leu
ENST00000688234.1:c.667G>T	ENSP00000509197.1:p.Val223Leu
ENST00000693531.1:n.1012G>T
ENST00000273432.8:c.667G>T	ENSP00000273432.4:p.Val223Leu
ENST00000309237.8:c.667G>T	ENSP00000310760.4:p.Val223Leu
ENST00000422248.6:c.667G>T	ENSP00000403308.2:p.Val223Leu
ENST00000474524.5:c.667G>T	ENSP00000417235.1:p.Val223Leu
NM_053002.5:c.667G>T	NP_443728.3:p.Val223Leu
XM_006713487.2:c.667G>T	XP_006713550.1:p.Val223Leu
XM_011512386.1:c.667G>T	XP_011510688.1:p.Val223Leu
XM_011512387.1:c.667G>T	XP_011510689.1:p.Val223Leu
XM_011512388.1:c.667G>T	XP_011510690.1:p.Val223Leu
XM_011512389.1:c.667G>T	XP_011510691.1:p.Val223Leu
XM_011512390.1:c.667G>T	XP_011510692.1:p.Val223Leu
XM_011512391.1:c.667G>T	XP_011510693.1:p.Val223Leu
XM_011512392.1:c.211G>T	XP_011510694.1:p.Val71Leu
XM_011512393.1:c.667G>T	XP_011510695.1:p.Val223Leu
XM_011512394.1:c.667G>T	XP_011510696.1:p.Val223Leu
XM_011512395.1:c.667G>T	XP_011510697.1:p.Val223Leu
XM_011512399.1:c.667G>T	XP_011510701.1:p.Val223Leu
XM_006713487.3:c.667G>T	XP_006713550.1:p.Val223Leu
XM_011512390.2:c.667G>T	XP_011510692.1:p.Val223Leu
XM_011512394.2:c.667G>T	XP_011510696.1:p.Val223Leu
XM_011512399.3:c.667G>T	XP_011510701.1:p.Val223Leu
XM_017005676.1:c.667G>T	XP_016861165.1:p.Val223Leu
XM_017005677.1:c.667G>T	XP_016861166.1:p.Val223Leu
XM_017005678.1:c.667G>T	XP_016861167.1:p.Val223Leu
XM_017005679.1:c.667G>T	XP_016861168.1:p.Val223Leu
XM_017005680.1:c.667G>T	XP_016861169.1:p.Val223Leu
XR_001740000.1:n.1068G>T
NM_001393769.1:c.667G>T MANE Select	NP_001380698.1:p.Val223Leu
NM_053002.6:c.667G>T	NP_443728.3:p.Val223Leu