Canonical Allele Identifier: CA338233654

Gene: ATP13A2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986897G>A , CM000663.2:g.16986897G>A	GRCh38
NC_000001.10:g.17313392G>A , CM000663.1:g.17313392G>A	GRCh37
NC_000001.9:g.17185979G>A	NCBI36
NG_009054.1:g.30032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3143C>T MANE Select	ENSP00000327214.8:p.Thr1048Ile
ENST00000326735.12:c.3143C>T	ENSP00000327214.8:p.Thr1048Ile
ENST00000341676.9:c.3011C>T	ENSP00000341115.5:p.Thr1004Ile
ENST00000452699.5:c.3128C>T	ENSP00000413307.1:p.Thr1043Ile
ENST00000466561.1:n.1017C>T
ENST00000502418.1:c.731C>T	ENSP00000423065.1:p.Thr244Ile
NM_001141973.2:c.3128C>T	NP_001135445.1:p.Thr1043Ile
NM_001141974.2:c.3011C>T	NP_001135446.1:p.Thr1004Ile
NM_022089.3:c.3143C>T	NP_071372.1:p.Thr1048Ile
XM_005245809.1:c.3143C>T	XP_005245866.1:p.Thr1048Ile
XM_005245810.1:c.3140C>T	XP_005245867.1:p.Thr1047Ile
XM_005245811.1:c.3128C>T	XP_005245868.1:p.Thr1043Ile
XM_005245812.1:c.3116C>T	XP_005245869.1:p.Thr1039Ile
XM_005245813.1:c.3083C>T	XP_005245870.1:p.Thr1028Ile
XM_005245815.1:c.3026C>T	XP_005245872.1:p.Thr1009Ile
XM_006710512.1:c.3125C>T	XP_006710575.1:p.Thr1042Ile
XM_006710513.1:c.3101C>T	XP_006710576.1:p.Thr1034Ile
XM_011541128.1:c.3128C>T	XP_011539430.1:p.Thr1043Ile
XM_011541129.1:c.2936C>T	XP_011539431.1:p.Thr979Ile
XM_017000844.1:c.3128C>T	XP_016856333.1:p.Thr1043Ile
XM_017000845.1:c.3125C>T	XP_016856334.1:p.Thr1042Ile
XM_017000846.1:c.3101C>T	XP_016856335.1:p.Thr1034Ile
XM_017000847.1:c.3098C>T	XP_016856336.1:p.Thr1033Ile
XM_017000848.1:c.3026C>T	XP_016856337.1:p.Thr1009Ile
XM_017000849.1:c.3011C>T	XP_016856338.1:p.Thr1004Ile
XM_017000850.1:c.2936C>T	XP_016856339.1:p.Thr979Ile
NM_022089.4:c.3143C>T MANE Select	NP_071372.1:p.Thr1048Ile
NM_001141973.3:c.3128C>T	NP_001135445.1:p.Thr1043Ile
NM_001141974.3:c.3011C>T	NP_001135446.1:p.Thr1004Ile