Canonical Allele Identifier: CA400990896

Gene: MIF4GD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75266751C>T , CM000679.2:g.75266751C>T	GRCh38
NC_000017.10:g.73262832C>T , CM000679.1:g.73262832C>T	GRCh37
NC_000017.9:g.70774427C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001370592.1:c.658G>A MANE Select	NP_001357521.1:p.Val220Ile
ENST00000325102.13:c.658G>A MANE Select	ENSP00000321625.8:p.Val220Ile
NM_001242498.1:c.781G>A	NP_001229427.1:p.Val261Ile
NM_001242498.2:c.781G>A	NP_001229427.1:p.Val261Ile
NM_001242500.1:c.760G>A	NP_001229429.1:p.Val254Ile
NM_001242501.1:c.658G>A	NP_001229430.1:p.Val220Ile
NM_001363806.1:c.502G>A	NP_001350735.1:p.Val168Ile
NM_001363806.2:c.502G>A	NP_001350735.1:p.Val168Ile
NM_001365751.1:c.781G>A	NP_001352680.1:p.Val261Ile
NM_001365752.1:c.658G>A	NP_001352681.1:p.Val220Ile
NM_001365753.1:c.658G>A	NP_001352682.1:p.Val220Ile
NM_001365754.1:c.658G>A	NP_001352683.1:p.Val220Ile
NM_001365755.1:c.658G>A	NP_001352684.1:p.Val220Ile
NM_020679.3:c.760G>A	NP_065730.2:p.Val254Ile
NM_020679.4:c.760G>A	NP_065730.2:p.Val254Ile
ENST00000245551.9:c.760G>A	ENSP00000245551.5:p.Val254Ile
ENST00000325102.12:c.658G>A	ENSP00000321625.8:p.Val220Ile
ENST00000577542.5:c.781G>A	ENSP00000463334.1:p.Val261Ile
ENST00000578305.5:c.*266G>A	ENSP00000463629.1:n.*266G>A
ENST00000579119.5:c.745G>A	ENSP00000463579.1:p.Val249Ile
ENST00000579194.6:c.781G>A	ENSP00000462655.2:p.Val261Ile
ENST00000579297.5:c.781G>A	ENSP00000462459.1:p.Val261Ile
ENST00000580571.5:c.502G>A	ENSP00000462412.1:p.Val168Ile
ENST00000581777.2:c.862G>A	ENSP00000463493.2:p.Val288Ile
ENST00000618645.4:c.658G>A	ENSP00000484245.1:p.Val220Ile
ENST00000618645.5:c.658G>A	ENSP00000484245.1:p.Val220Ile
ENST00000649805.1:c.*517G>A	ENSP00000498095.1:n.*517G>A
ENST00000678201.1:n.1341G>A
XM_005257530.1:c.781G>A	XP_005257587.1:p.Val261Ile
XM_005257531.3:c.658G>A	XP_005257588.1:p.Val220Ile
XM_005257532.3:c.658G>A	XP_005257589.1:p.Val220Ile
XM_005257532.5:c.658G>A	XP_005257589.1:p.Val220Ile
XM_005257533.1:c.658G>A	XP_005257590.1:p.Val220Ile
XM_006721985.2:c.781G>A	XP_006722048.1:p.Val261Ile
XM_006721986.2:c.781G>A	XP_006722049.1:p.Val261Ile
XM_011525051.1:c.985G>A	XP_011523353.1:p.Val329Ile
XM_011525051.2:c.985G>A	XP_011523353.1:p.Val329Ile
XM_011525052.1:c.964G>A	XP_011523354.1:p.Val322Ile
XM_011525052.2:c.964G>A	XP_011523354.1:p.Val322Ile
XM_011525053.1:c.862G>A	XP_011523355.1:p.Val288Ile
XM_011525053.3:c.862G>A	XP_011523355.1:p.Val288Ile
XM_011525054.1:c.829G>A	XP_011523356.1:p.Val277Ile
XM_011525054.2:c.829G>A	XP_011523356.1:p.Val277Ile
XM_011525055.1:c.706G>A	XP_011523357.1:p.Val236Ile
XM_011525055.2:c.706G>A	XP_011523357.1:p.Val236Ile
XM_011525056.1:c.691G>A	XP_011523358.1:p.Val231Ile
XM_011525057.1:c.502G>A	XP_011523359.1:p.Val168Ile
XM_011525057.2:c.502G>A	XP_011523359.1:p.Val168Ile
XM_017024888.1:c.*517G>A	XP_016880377.1:n.*517G>A
XM_017024889.2:c.*517G>A	XP_016880378.1:n.*517G>A
XM_017024890.1:c.*517G>A	XP_016880379.1:n.*517G>A
XM_017024891.2:c.*517G>A	XP_016880380.1:n.*517G>A
XM_017024895.2:c.604G>A	XP_016880384.1:p.Val202Ile