Canonical Allele Identifier: CA354962042

Gene: MED12L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151193643G>A , CM000665.2:g.151193643G>A	GRCh38
NC_000003.11:g.150911430G>A , CM000665.1:g.150911430G>A	GRCh37
NC_000003.10:g.152394120G>A	NCBI36
NG_021244.1:g.111755G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001393769.1:c.2227G>A MANE Select	NP_001380698.1:p.Ala743Thr
ENST00000687756.1:c.2227G>A MANE Select	ENSP00000508695.1:p.Ala743Thr
NM_053002.5:c.2122G>A	NP_443728.3:p.Ala708Thr
NM_053002.6:c.2122G>A	NP_443728.3:p.Ala708Thr
ENST00000273432.8:c.1702G>A	ENSP00000273432.4:p.Ala568Thr
ENST00000309237.8:c.2227G>A	ENSP00000310760.4:p.Ala743Thr
ENST00000422248.6:c.2122G>A	ENSP00000403308.2:p.Ala708Thr
ENST00000474524.5:c.2122G>A	ENSP00000417235.1:p.Ala708Thr
ENST00000480026.1:c.170G>A
ENST00000685357.1:n.2485G>A
ENST00000686666.1:c.1863+2712G>A	ENSP00000509482.1:n.1863+2712G>A
ENST00000688234.1:c.2227G>A	ENSP00000509197.1:p.Ala743Thr
ENST00000693531.1:n.2302G>A
XM_006713487.2:c.2227G>A	XP_006713550.1:p.Ala743Thr
XM_006713487.3:c.2227G>A	XP_006713550.1:p.Ala743Thr
XM_011512386.1:c.2227G>A	XP_011510688.1:p.Ala743Thr
XM_011512387.1:c.2227G>A	XP_011510689.1:p.Ala743Thr
XM_011512388.1:c.2227G>A	XP_011510690.1:p.Ala743Thr
XM_011512389.1:c.2122G>A	XP_011510691.1:p.Ala708Thr
XM_011512390.1:c.2122G>A	XP_011510692.1:p.Ala708Thr
XM_011512390.2:c.2122G>A	XP_011510692.1:p.Ala708Thr
XM_011512391.1:c.1957G>A	XP_011510693.1:p.Ala653Thr
XM_011512392.1:c.1771G>A	XP_011510694.1:p.Ala591Thr
XM_011512393.1:c.2227G>A	XP_011510695.1:p.Ala743Thr
XM_011512394.1:c.2227G>A	XP_011510696.1:p.Ala743Thr
XM_011512394.2:c.2227G>A	XP_011510696.1:p.Ala743Thr
XM_011512395.1:c.2227G>A	XP_011510697.1:p.Ala743Thr
XM_011512396.1:c.652G>A	XP_011510698.1:p.Ala218Thr
XM_011512399.1:c.2227G>A	XP_011510701.1:p.Ala743Thr
XM_011512399.3:c.2227G>A	XP_011510701.1:p.Ala743Thr
XM_017005676.1:c.2227G>A	XP_016861165.1:p.Ala743Thr
XM_017005677.1:c.2227G>A	XP_016861166.1:p.Ala743Thr
XM_017005678.1:c.2227G>A	XP_016861167.1:p.Ala743Thr
XM_017005679.1:c.1957G>A	XP_016861168.1:p.Ala653Thr
XM_017005680.1:c.1968+2712G>A	XP_016861169.1:n.1968+2712G>A
XR_001740000.1:n.2628G>A