Canonical Allele Identifier: CA90647035

Gene: ATP13A3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194406005C>A , CM000665.2:g.194406005C>A	GRCh38
NC_000003.11:g.194126734C>A , CM000665.1:g.194126734C>A	GRCh37
NC_000003.10:g.195608023C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001367549.1:c.3685G>T MANE Select	NP_001354478.1:p.Glu1229Ter
ENST00000645319.2:c.3685G>T MANE Select	ENSP00000494937.2:p.Glu1229Ter
NM_001374836.1:c.3604G>T	NP_001361765.1:p.Glu1202Ter
NM_024524.3:c.3595G>T	NP_078800.3:p.Glu1199Ter
NM_024524.4:c.3595G>T	NP_078800.3:p.Glu1199Ter
NR_164667.1:n.4167G>T
ENST00000256031.8:c.3595G>T	ENSP00000256031.4:p.Glu1199Ter
ENST00000429136.5:c.401G>T
ENST00000429136.6:c.990G>T	ENSP00000402550.2:p.Gln330His
ENST00000429136.7:n.1531G>T
ENST00000439040.5:c.3595G>T	ENSP00000416508.1:p.Glu1199Ter
ENST00000439040.6:c.3595G>T	ENSP00000416508.1:p.Glu1199Ter
ENST00000461660.1:n.977G>T
ENST00000461660.2:n.789G>T
ENST00000619199.4:c.1977-1839G>T	ENSP00000482200.1:n.1977-1839G>T
ENST00000642744.1:c.3604G>T	ENSP00000493923.1:p.Glu1202Ter
ENST00000642744.2:c.3456G>T	ENSP00000493923.2:p.Gln1152His
ENST00000645538.1:c.3595G>T	ENSP00000494471.1:p.Glu1199Ter
ENST00000645621.1:n.5659G>T
ENST00000685123.1:n.4042G>T
ENST00000687055.1:n.4387G>T
ENST00000690810.1:n.4105G>T
ENST00000691700.1:n.2073G>T
XM_005269357.2:c.3685G>T	XP_005269414.1:p.Glu1229Ter
XM_005269357.3:c.3685G>T	XP_005269414.1:p.Glu1229Ter
XM_011513120.1:c.3685G>T	XP_011511422.1:p.Glu1229Ter
XM_011513120.2:c.3685G>T	XP_011511422.1:p.Glu1229Ter
XM_011513121.1:c.3685G>T	XP_011511423.1:p.Glu1229Ter
XM_011513122.1:c.3604G>T	XP_011511424.1:p.Glu1202Ter
XM_011513123.1:c.3595G>T	XP_011511425.1:p.Glu1199Ter
XM_011513123.2:c.3595G>T	XP_011511425.1:p.Glu1199Ter