Canonical Allele Identifier: CA338230463

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986027-C-A
• MyVariant Identifiers: chr1:g.17312522C>A (hg19) ; chr1:g.16986027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986027C>A , CM000663.2:g.16986027C>A	GRCh38
NC_000001.10:g.17312522C>A , CM000663.1:g.17312522C>A	GRCh37
NC_000001.9:g.17185109C>A	NCBI36
NG_009054.1:g.30902G>T
NG_029688.1:g.560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*194G>T MANE Select	ENSP00000327214.8:n.*194G>T
ENST00000326735.12:c.*194G>T	ENSP00000327214.8:n.*194G>T
ENST00000341676.9:c.3435G>T	ENSP00000341115.5:p.Arg1145Ser
ENST00000452699.5:c.*194G>T	ENSP00000413307.1:n.*194G>T
ENST00000466561.1:n.1783G>T
ENST00000502418.1:c.1155G>T	ENSP00000423065.1:p.Arg385Ser
NM_001141973.2:c.*194G>T	NP_001135445.1:n.*194G>T
NM_001141974.2:c.3435G>T	NP_001135446.1:p.Arg1145Ser
NM_022089.3:c.*194G>T	NP_071372.1:n.*194G>T
XM_005245809.1:c.3567G>T	XP_005245866.1:p.Arg1189Ser
XM_005245810.1:c.3564G>T	XP_005245867.1:p.Arg1188Ser
XM_005245811.1:c.3552G>T	XP_005245868.1:p.Arg1184Ser
XM_005245812.1:c.3540G>T	XP_005245869.1:p.Arg1180Ser
XM_005245813.1:c.3507G>T	XP_005245870.1:p.Arg1169Ser
XM_005245815.1:c.3450G>T	XP_005245872.1:p.Arg1150Ser
XM_006710512.1:c.3549G>T	XP_006710575.1:p.Arg1183Ser
XM_006710513.1:c.3525G>T	XP_006710576.1:p.Arg1175Ser
XM_011541128.1:c.3552G>T	XP_011539430.1:p.Arg1184Ser
XM_011541129.1:c.3360G>T	XP_011539431.1:p.Arg1120Ser
XM_017000844.1:c.*194G>T	XP_016856333.1:n.*194G>T
XM_017000845.1:c.*194G>T	XP_016856334.1:n.*194G>T
XM_017000846.1:c.*194G>T	XP_016856335.1:n.*194G>T
XM_017000847.1:c.*194G>T	XP_016856336.1:n.*194G>T
XM_017000848.1:c.*194G>T	XP_016856337.1:n.*194G>T
XM_017000849.1:c.*194G>T	XP_016856338.1:n.*194G>T
XM_017000850.1:c.*194G>T	XP_016856339.1:n.*194G>T
NM_022089.4:c.*194G>T MANE Select	NP_071372.1:n.*194G>T
NM_001141973.3:c.*194G>T	NP_001135445.1:n.*194G>T
NM_001141974.3:c.3435G>T	NP_001135446.1:p.Arg1145Ser