Canonical Allele Identifier: CA354978222

Gene: MED12L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151390102G>A , CM000665.2:g.151390102G>A	GRCh38
NC_000003.11:g.151107890G>A , CM000665.1:g.151107890G>A	GRCh37
NC_000003.10:g.152590580G>A	NCBI36
NG_021244.1:g.308215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001393769.1:c.5575G>A MANE Select	NP_001380698.1:p.Gly1859Ser
ENST00000687756.1:c.5575G>A MANE Select	ENSP00000508695.1:p.Gly1859Ser
NM_053002.5:c.5470G>A	NP_443728.3:p.Gly1824Ser
NM_053002.6:c.5470G>A	NP_443728.3:p.Gly1824Ser
ENST00000273432.8:c.5050G>A	ENSP00000273432.4:p.Gly1684Ser
ENST00000474524.5:c.5470G>A	ENSP00000417235.1:p.Gly1824Ser
XM_006713487.2:c.5575G>A	XP_006713550.1:p.Gly1859Ser
XM_006713487.3:c.5575G>A	XP_006713550.1:p.Gly1859Ser
XM_011512386.1:c.5575G>A	XP_011510688.1:p.Gly1859Ser
XM_011512387.1:c.5572G>A	XP_011510689.1:p.Gly1858Ser
XM_011512388.1:c.5575G>A	XP_011510690.1:p.Gly1859Ser
XM_011512389.1:c.5470G>A	XP_011510691.1:p.Gly1824Ser
XM_011512390.1:c.5470G>A	XP_011510692.1:p.Gly1824Ser
XM_011512390.2:c.5470G>A	XP_011510692.1:p.Gly1824Ser
XM_011512391.1:c.5305G>A	XP_011510693.1:p.Gly1769Ser
XM_011512392.1:c.5119G>A	XP_011510694.1:p.Gly1707Ser
XM_011512393.1:c.5575G>A	XP_011510695.1:p.Gly1859Ser
XM_011512394.1:c.5575G>A	XP_011510696.1:p.Gly1859Ser
XM_011512394.2:c.5575G>A	XP_011510696.1:p.Gly1859Ser
XM_011512395.1:c.5451+1930G>A	XP_011510697.1:n.5451+1930G>A
XM_011512396.1:c.4000G>A	XP_011510698.1:p.Gly1334Ser
XM_011512397.1:c.3442G>A	XP_011510699.1:p.Gly1148Ser
XM_011512398.1:c.3370G>A	XP_011510700.1:p.Gly1124Ser
XM_011512400.1:c.2392G>A	XP_011510702.1:p.Gly798Ser
XM_017005676.1:c.5575G>A	XP_016861165.1:p.Gly1859Ser
XM_017005677.1:c.5572G>A	XP_016861166.1:p.Gly1858Ser
XM_017005678.1:c.5575G>A	XP_016861167.1:p.Gly1859Ser
XM_017005679.1:c.5305G>A	XP_016861168.1:p.Gly1769Ser
XM_017005680.1:c.5293G>A	XP_016861169.1:p.Gly1765Ser
XM_017005681.1:c.2962G>A	XP_016861170.1:p.Gly988Ser