Canonical Allele Identifier: CA354980335

Gene: MED12L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151409252G>T , CM000665.2:g.151409252G>T	GRCh38
NC_000003.11:g.151127040G>T , CM000665.1:g.151127040G>T	GRCh37
NC_000003.10:g.152609730G>T	NCBI36
NG_021244.1:g.327365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687756.1:c.5830G>T MANE Select	ENSP00000508695.1:p.Gly1944Trp
ENST00000273432.8:c.5295+14385G>T	ENSP00000273432.4:n.5295+14385G>T
ENST00000474524.5:c.5725G>T	ENSP00000417235.1:p.Gly1909Trp
ENST00000488092.1:n.202-7060G>T
NM_053002.5:c.5725G>T	NP_443728.3:p.Gly1909Trp
XM_006713487.2:c.5830G>T	XP_006713550.1:p.Gly1944Trp
XM_011512386.1:c.5830G>T	XP_011510688.1:p.Gly1944Trp
XM_011512387.1:c.5827G>T	XP_011510689.1:p.Gly1943Trp
XM_011512388.1:c.5821-2026G>T	XP_011510690.1:n.5821-2026G>T
XM_011512389.1:c.5725G>T	XP_011510691.1:p.Gly1909Trp
XM_011512390.1:c.5725G>T	XP_011510692.1:p.Gly1909Trp
XM_011512391.1:c.5560G>T	XP_011510693.1:p.Gly1854Trp
XM_011512392.1:c.5374G>T	XP_011510694.1:p.Gly1792Trp
XM_011512393.1:c.*39G>T	XP_011510695.1:n.*39G>T
XM_011512396.1:c.4255G>T	XP_011510698.1:p.Gly1419Trp
XM_011512397.1:c.3697G>T	XP_011510699.1:p.Gly1233Trp
XM_011512398.1:c.3625G>T	XP_011510700.1:p.Gly1209Trp
XM_011512400.1:c.2647G>T	XP_011510702.1:p.Gly883Trp
XM_006713487.3:c.5830G>T	XP_006713550.1:p.Gly1944Trp
XM_011512390.2:c.5725G>T	XP_011510692.1:p.Gly1909Trp
XM_017005676.1:c.5881G>T	XP_016861165.1:p.Gly1961Trp
XM_017005677.1:c.5878G>T	XP_016861166.1:p.Gly1960Trp
XM_017005678.1:c.5821-2026G>T	XP_016861167.1:n.5821-2026G>T
XM_017005679.1:c.5611G>T	XP_016861168.1:p.Gly1871Trp
XM_017005680.1:c.5599G>T	XP_016861169.1:p.Gly1867Trp
XM_017005681.1:c.3217G>T	XP_016861170.1:p.Gly1073Trp
NM_001393769.1:c.5830G>T MANE Select	NP_001380698.1:p.Gly1944Trp
NM_053002.6:c.5725G>T	NP_443728.3:p.Gly1909Trp