Canonical Allele Identifier: CA214404

Gene: MGME1 OVOL2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17970315G>A , CM000682.2:g.17970315G>A	GRCh38
NC_000020.10:g.17950958G>A , CM000682.1:g.17950958G>A	GRCh37
NC_000020.9:g.17898958G>A	NCBI36
NG_042236.1:g.6425G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052865.4:c.456G>A (MGME1) MANE Select	NP_443097.1:p.Trp152Ter
ENST00000377710.10:c.456G>A (MGME1) MANE Select	ENSP00000366939.5:p.Trp152Ter
NM_001310338.1:c.456G>A (MGME1)	NP_001297267.1:p.Trp152Ter
NM_001310338.2:c.456G>A (MGME1)	NP_001297267.1:p.Trp152Ter
NM_001310339.1:c.456G>A (MGME1)	NP_001297268.1:p.Trp152Ter
NM_001310339.2:c.456G>A (MGME1)	NP_001297268.1:p.Trp152Ter
NM_001363738.1:c.271+185G>A (MGME1)	NP_001350667.1:n.271+185G>A
NM_001363738.2:c.271+185G>A (MGME1)	NP_001350667.1:n.271+185G>A
NM_052865.2:c.456G>A (MGME1)	NP_443097.1:p.Trp152Ter
NM_052865.3:c.456G>A (MGME1)	NP_443097.1:p.Trp152Ter
ENST00000377704.4:c.456G>A (MGME1)	ENSP00000366933.4:p.Trp152Ter
ENST00000377709.1:c.271+185G>A (MGME1)	ENSP00000366938.1:n.271+185G>A
ENST00000377710.9:c.456G>A (MGME1)	ENSP00000366939.5:p.Trp152Ter
ENST00000463219.1:n.100+185G>A (MGME1)
ENST00000467391.1:n.259G>A (MGME1)
ENST00000486776.5:n.492-13278C>T (OVOL2)
XM_005260867.2:c.456G>A (MGME1)	XP_005260924.1:p.Trp152Ter
XM_005260867.3:c.456G>A (MGME1)	XP_005260924.1:p.Trp152Ter
XM_005260870.2:c.456G>A (MGME1)	XP_005260927.1:p.Trp152Ter
XM_005260870.4:c.456G>A (MGME1)	XP_005260927.1:p.Trp152Ter
XM_006723663.2:c.456G>A (MGME1)	XP_006723726.1:p.Trp152Ter
XM_006723663.4:c.456G>A (MGME1)	XP_006723726.1:p.Trp152Ter
XM_011529394.1:c.456G>A (MGME1)	XP_011527696.1:p.Trp152Ter
XM_011529395.1:c.271+185G>A (MGME1)	XP_011527697.1:n.271+185G>A
XM_017028127.2:c.456G>A (MGME1)	XP_016883616.1:p.Trp152Ter
XM_017028128.1:c.456G>A (MGME1)	XP_016883617.1:p.Trp152Ter
XM_024452017.1:c.456G>A (MGME1)	XP_024307785.1:p.Trp152Ter