Canonical Allele Identifier: CA2240146

Gene: MTMR14

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9649725G>A , CM000665.2:g.9649725G>A	GRCh38
NC_000003.11:g.9691409G>A , CM000665.1:g.9691409G>A	GRCh37
NC_000003.10:g.9666409G>A	NCBI36
NG_017068.1:g.5293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296003.9:c.142G>A MANE Select	ENSP00000296003.5:p.Gly48Arg
ENST00000296003.8:c.142G>A	ENSP00000296003.4:p.Gly48Arg
ENST00000351233.9:c.142G>A	ENSP00000334070.7:p.Gly48Arg
ENST00000353332.9:c.142G>A	ENSP00000323462.8:p.Gly48Arg
ENST00000416864.5:c.142G>A	ENSP00000412644.1:p.Gly48Arg
ENST00000420925.5:c.142G>A	ENSP00000401993.1:p.Gly48Arg
ENST00000430020.5:c.142G>A	ENSP00000392690.1:p.Gly48Arg
ENST00000437997.1:c.142G>A	ENSP00000408813.1:p.Gly48Arg
ENST00000447144.5:c.142G>A	ENSP00000410761.1:p.Gly48Arg
ENST00000480578.1:n.117G>A
ENST00000617504.4:c.142G>A	ENSP00000478236.1:p.Gly48Arg
NM_001077525.2:c.142G>A	NP_001070993.1:p.Gly48Arg
NM_001077526.2:c.142G>A	NP_001070994.1:p.Gly48Arg
NM_022485.4:c.142G>A	NP_071930.2:p.Gly48Arg
XM_005265400.1:c.142G>A	XP_005265457.1:p.Gly48Arg
XM_011534012.1:c.9G>A	XP_011532314.1:p.Ala3=
XR_245152.1:n.266G>A
XM_005265400.2:c.142G>A	XP_005265457.1:p.Gly48Arg
XM_017007034.1:c.9G>A	XP_016862523.1:p.Ala3=
XM_017007035.1:c.9G>A	XP_016862524.1:p.Ala3=
XM_017007036.1:c.9G>A	XP_016862525.1:p.Ala3=
XM_017007037.1:c.9G>A	XP_016862526.1:p.Ala3=
XM_017007038.2:c.142G>A	XP_016862527.1:p.Gly48Arg
XM_017007039.1:c.9G>A	XP_016862528.1:p.Ala3=
XM_017007040.1:c.9G>A	XP_016862529.1:p.Ala3=
XM_017007041.1:c.9G>A	XP_016862530.1:p.Ala3=
XM_017007042.2:c.142G>A	XP_016862531.1:p.Gly48Arg
XM_017007043.1:c.9G>A	XP_016862532.1:p.Ala3=
XM_017007044.2:c.-425G>A	XP_016862533.1:n.-425G>A
XM_017007045.2:c.-364G>A	XP_016862534.1:n.-364G>A
XM_024453710.1:c.-364G>A	XP_024309478.1:n.-364G>A
XR_001740231.1:n.260G>A
XR_001740232.1:n.261G>A
XR_001740233.2:n.253G>A
XR_245152.2:n.253G>A
NM_001077525.3:c.142G>A MANE Select	NP_001070993.1:p.Gly48Arg
NM_001077526.3:c.142G>A	NP_001070994.1:p.Gly48Arg
NM_022485.5:c.142G>A	NP_071930.2:p.Gly48Arg
NM_001400518.1:c.9G>A	NP_001387447.1:p.Ala3=
NM_001400519.1:c.142G>A	NP_001387448.1:p.Gly48Arg
NM_001400520.1:c.142G>A	NP_001387449.1:p.Gly48Arg
NM_001400521.1:c.9G>A	NP_001387450.1:p.Ala3=
NM_001400522.1:c.142G>A	NP_001387451.1:p.Gly48Arg
NM_001400523.1:c.142G>A	NP_001387452.1:p.Gly48Arg
NM_001400524.1:c.142G>A	NP_001387453.1:p.Gly48Arg
NM_001400525.1:c.9G>A	NP_001387454.1:p.Ala3=
NM_001400526.1:c.9G>A	NP_001387455.1:p.Ala3=
NM_001400527.1:c.142G>A	NP_001387456.1:p.Gly48Arg
NM_001400528.1:c.142G>A	NP_001387457.1:p.Gly48Arg
NM_001400529.1:c.9G>A	NP_001387458.1:p.Ala3=
NM_001400530.1:c.142G>A	NP_001387459.1:p.Gly48Arg
NM_001400531.1:c.142G>A	NP_001387460.1:p.Gly48Arg
NM_001400532.1:c.9G>A	NP_001387461.1:p.Ala3=
NM_001400533.1:c.-364G>A	NP_001387462.1:n.-364G>A
NM_001400534.1:c.-425G>A	NP_001387463.1:n.-425G>A
NM_001400535.1:c.-215G>A	NP_001387464.1:n.-215G>A
NM_001400536.1:c.142G>A	NP_001387465.1:p.Gly48Arg
NM_001400537.1:c.9G>A	NP_001387466.1:p.Ala3=
NM_001400538.1:c.-425G>A	NP_001387467.1:n.-425G>A
NM_001400539.1:c.-364G>A	NP_001387468.1:n.-364G>A
NM_001400540.1:c.-392G>A	NP_001387469.1:n.-392G>A
NM_001400541.1:c.-425G>A	NP_001387470.1:n.-425G>A
NM_001400542.1:c.-627G>A	NP_001387471.1:n.-627G>A
NM_001400543.1:c.-186G>A	NP_001387472.1:n.-186G>A
NM_001400544.1:c.-437G>A	NP_001387473.1:n.-437G>A
NM_001400545.1:c.-364G>A	NP_001387474.1:n.-364G>A
NM_001400546.1:c.-425G>A	NP_001387475.1:n.-425G>A
NM_001400547.1:c.-574G>A	NP_001387476.1:n.-574G>A
NM_001400548.1:c.-498G>A	NP_001387477.1:n.-498G>A
NM_001400549.1:c.-425G>A	NP_001387478.1:n.-425G>A
NM_001400550.1:c.-328G>A	NP_001387479.1:n.-328G>A
NR_174503.1:n.221G>A
NR_174504.1:n.221G>A
NR_174505.1:n.221G>A
NR_174506.1:n.221G>A
NR_174507.1:n.221G>A
NR_174508.1:n.221G>A
NR_174509.1:n.221G>A
NR_174510.1:n.221G>A
NR_174511.1:n.221G>A