Canonical Allele Identifier: CA18624462

Gene: ATP13A2

Linked Data

• dbSNP Id: rs937486329
• MyVariant Identifiers: chr1:g.17312652G>C (hg19) ; chr1:g.16986157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986157G>C , CM000663.2:g.16986157G>C	GRCh38
NC_000001.10:g.17312652G>C , CM000663.1:g.17312652G>C	GRCh37
NC_000001.9:g.17185239G>C	NCBI36
NG_009054.1:g.30772C>G
NG_029688.1:g.430C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*64C>G MANE Select	ENSP00000327214.8:n.*64C>G
ENST00000326735.12:c.*64C>G	ENSP00000327214.8:n.*64C>G
ENST00000341676.9:c.3305C>G	ENSP00000341115.5:p.Ser1102Cys
ENST00000452699.5:c.*64C>G	ENSP00000413307.1:n.*64C>G
ENST00000466561.1:n.1653C>G
ENST00000502418.1:c.1025C>G	ENSP00000423065.1:p.Ser342Cys
NM_001141973.2:c.*64C>G	NP_001135445.1:n.*64C>G
NM_001141974.2:c.3305C>G	NP_001135446.1:p.Ser1102Cys
NM_022089.3:c.*64C>G	NP_071372.1:n.*64C>G
XM_005245809.1:c.3437C>G	XP_005245866.1:p.Ser1146Cys
XM_005245810.1:c.3434C>G	XP_005245867.1:p.Ser1145Cys
XM_005245811.1:c.3422C>G	XP_005245868.1:p.Ser1141Cys
XM_005245812.1:c.3410C>G	XP_005245869.1:p.Ser1137Cys
XM_005245813.1:c.3377C>G	XP_005245870.1:p.Ser1126Cys
XM_005245815.1:c.3320C>G	XP_005245872.1:p.Ser1107Cys
XM_006710512.1:c.3419C>G	XP_006710575.1:p.Ser1140Cys
XM_006710513.1:c.3395C>G	XP_006710576.1:p.Ser1132Cys
XM_011541128.1:c.3422C>G	XP_011539430.1:p.Ser1141Cys
XM_011541129.1:c.3230C>G	XP_011539431.1:p.Ser1077Cys
XM_017000844.1:c.*64C>G	XP_016856333.1:n.*64C>G
XM_017000845.1:c.*64C>G	XP_016856334.1:n.*64C>G
XM_017000846.1:c.*64C>G	XP_016856335.1:n.*64C>G
XM_017000847.1:c.*64C>G	XP_016856336.1:n.*64C>G
XM_017000848.1:c.*64C>G	XP_016856337.1:n.*64C>G
XM_017000849.1:c.*64C>G	XP_016856338.1:n.*64C>G
XM_017000850.1:c.*64C>G	XP_016856339.1:n.*64C>G
NM_022089.4:c.*64C>G MANE Select	NP_071372.1:n.*64C>G
NM_001141973.3:c.*64C>G	NP_001135445.1:n.*64C>G
NM_001141974.3:c.3305C>G	NP_001135446.1:p.Ser1102Cys