Canonical Allele Identifier: CA354980366

Gene: MED12L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.151409256A>T , CM000665.2:g.151409256A>T	GRCh38
NC_000003.11:g.151127044A>T , CM000665.1:g.151127044A>T	GRCh37
NC_000003.10:g.152609734A>T	NCBI36
NG_021244.1:g.327369A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001393769.1:c.5834A>T MANE Select	NP_001380698.1:p.Asp1945Val
ENST00000687756.1:c.5834A>T MANE Select	ENSP00000508695.1:p.Asp1945Val
NM_053002.5:c.5729A>T	NP_443728.3:p.Asp1910Val
NM_053002.6:c.5729A>T	NP_443728.3:p.Asp1910Val
ENST00000273432.8:c.5295+14389A>T	ENSP00000273432.4:n.5295+14389A>T
ENST00000474524.5:c.5729A>T	ENSP00000417235.1:p.Asp1910Val
ENST00000488092.1:n.202-7056A>T
XM_006713487.2:c.5834A>T	XP_006713550.1:p.Asp1945Val
XM_006713487.3:c.5834A>T	XP_006713550.1:p.Asp1945Val
XM_011512386.1:c.5834A>T	XP_011510688.1:p.Asp1945Val
XM_011512387.1:c.5831A>T	XP_011510689.1:p.Asp1944Val
XM_011512388.1:c.5821-2022A>T	XP_011510690.1:n.5821-2022A>T
XM_011512389.1:c.5729A>T	XP_011510691.1:p.Asp1910Val
XM_011512390.1:c.5729A>T	XP_011510692.1:p.Asp1910Val
XM_011512390.2:c.5729A>T	XP_011510692.1:p.Asp1910Val
XM_011512391.1:c.5564A>T	XP_011510693.1:p.Asp1855Val
XM_011512392.1:c.5378A>T	XP_011510694.1:p.Asp1793Val
XM_011512393.1:c.*43A>T	XP_011510695.1:n.*43A>T
XM_011512396.1:c.4259A>T	XP_011510698.1:p.Asp1420Val
XM_011512397.1:c.3701A>T	XP_011510699.1:p.Asp1234Val
XM_011512398.1:c.3629A>T	XP_011510700.1:p.Asp1210Val
XM_011512400.1:c.2651A>T	XP_011510702.1:p.Asp884Val
XM_017005676.1:c.5885A>T	XP_016861165.1:p.Asp1962Val
XM_017005677.1:c.5882A>T	XP_016861166.1:p.Asp1961Val
XM_017005678.1:c.5821-2022A>T	XP_016861167.1:n.5821-2022A>T
XM_017005679.1:c.5615A>T	XP_016861168.1:p.Asp1872Val
XM_017005680.1:c.5603A>T	XP_016861169.1:p.Asp1868Val
XM_017005681.1:c.3221A>T	XP_016861170.1:p.Asp1074Val