Canonical Allele Identifier: CA408338949
Community Standard Title: NM_052865.4(MGME1):c.203C>G (p.Thr68Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.17970062C>G , CM000682.2:g.17970062C>G GRCh38
NC_000020.10:g.17950705C>G , CM000682.1:g.17950705C>G GRCh37
NC_000020.9:g.17898705C>G NCBI36
NG_042236.1:g.6172C>G

Transcript Alleles

HGVS Amino-acid Change
NM_052865.4:c.203C>G (MGME1) MANE Select NP_443097.1:p.Thr68Ser
ENST00000377710.10:c.203C>G (MGME1) MANE Select ENSP00000366939.5:p.Thr68Ser
NM_001310338.1:c.203C>G (MGME1) NP_001297267.1:p.Thr68Ser
NM_001310338.2:c.203C>G (MGME1) NP_001297267.1:p.Thr68Ser
NM_001310339.1:c.203C>G (MGME1) NP_001297268.1:p.Thr68Ser
NM_001310339.2:c.203C>G (MGME1) NP_001297268.1:p.Thr68Ser
NM_001363738.1:c.203C>G (MGME1) NP_001350667.1:p.Thr68Ser
NM_001363738.2:c.203C>G (MGME1) NP_001350667.1:p.Thr68Ser
NM_052865.2:c.203C>G (MGME1) NP_443097.1:p.Thr68Ser
NM_052865.3:c.203C>G (MGME1) NP_443097.1:p.Thr68Ser
ENST00000377704.4:c.203C>G (MGME1) ENSP00000366933.4:p.Thr68Ser
ENST00000377709.1:c.203C>G (MGME1) ENSP00000366938.1:p.Thr68Ser
ENST00000377710.9:c.203C>G (MGME1) ENSP00000366939.5:p.Thr68Ser
ENST00000463219.1:n.32C>G (MGME1)
ENST00000467391.1:n.6C>G (MGME1)
ENST00000486776.5:n.492-13025G>C (OVOL2)
XM_005260867.2:c.203C>G (MGME1) XP_005260924.1:p.Thr68Ser
XM_005260867.3:c.203C>G (MGME1) XP_005260924.1:p.Thr68Ser
XM_005260870.2:c.203C>G (MGME1) XP_005260927.1:p.Thr68Ser
XM_005260870.4:c.203C>G (MGME1) XP_005260927.1:p.Thr68Ser
XM_006723663.2:c.203C>G (MGME1) XP_006723726.1:p.Thr68Ser
XM_006723663.4:c.203C>G (MGME1) XP_006723726.1:p.Thr68Ser
XM_011529394.1:c.203C>G (MGME1) XP_011527696.1:p.Thr68Ser
XM_011529395.1:c.203C>G (MGME1) XP_011527697.1:p.Thr68Ser
XM_017028127.2:c.203C>G (MGME1) XP_016883616.1:p.Thr68Ser
XM_017028128.1:c.203C>G (MGME1) XP_016883617.1:p.Thr68Ser
XM_024452017.1:c.203C>G (MGME1) XP_024307785.1:p.Thr68Ser