Canonical Allele Identifier: CA338232785
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986495T>A , CM000663.2:g.16986495T>A GRCh38
NC_000001.10:g.17312990T>A , CM000663.1:g.17312990T>A GRCh37
NC_000001.9:g.17185577T>A NCBI36
NG_009054.1:g.30434A>T
NG_029688.1:g.92A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3373A>T MANE Select ENSP00000327214.8:p.Thr1125Ser
ENST00000326735.12:c.3373A>T ENSP00000327214.8:p.Thr1125Ser
ENST00000341676.9:c.3104-137A>T ENSP00000341115.5:n.3104-137A>T
ENST00000452699.5:c.3358A>T ENSP00000413307.1:p.Thr1120Ser
ENST00000466561.1:n.1419A>T
ENST00000502418.1:c.824-137A>T ENSP00000423065.1:n.824-137A>T
NM_001141973.2:c.3358A>T NP_001135445.1:p.Thr1120Ser
NM_001141974.2:c.3104-137A>T NP_001135446.1:n.3104-137A>T
NM_022089.3:c.3373A>T NP_071372.1:p.Thr1125Ser
XM_005245809.1:c.3236-137A>T XP_005245866.1:n.3236-137A>T
XM_005245810.1:c.3233-137A>T XP_005245867.1:n.3233-137A>T
XM_005245811.1:c.3221-137A>T XP_005245868.1:n.3221-137A>T
XM_005245812.1:c.3209-137A>T XP_005245869.1:n.3209-137A>T
XM_005245813.1:c.3176-137A>T XP_005245870.1:n.3176-137A>T
XM_005245815.1:c.3119-137A>T XP_005245872.1:n.3119-137A>T
XM_006710512.1:c.3218-137A>T XP_006710575.1:n.3218-137A>T
XM_006710513.1:c.3194-137A>T XP_006710576.1:n.3194-137A>T
XM_011541128.1:c.3221-137A>T XP_011539430.1:n.3221-137A>T
XM_011541129.1:c.3029-137A>T XP_011539431.1:n.3029-137A>T
XM_017000844.1:c.3358A>T XP_016856333.1:p.Thr1120Ser
XM_017000845.1:c.3355A>T XP_016856334.1:p.Thr1119Ser
XM_017000846.1:c.3331A>T XP_016856335.1:p.Thr1111Ser
XM_017000847.1:c.3328A>T XP_016856336.1:p.Thr1110Ser
XM_017000848.1:c.3256A>T XP_016856337.1:p.Thr1086Ser
XM_017000849.1:c.3241A>T XP_016856338.1:p.Thr1081Ser
XM_017000850.1:c.3166A>T XP_016856339.1:p.Thr1056Ser
NM_022089.4:c.3373A>T MANE Select NP_071372.1:p.Thr1125Ser
NM_001141973.3:c.3358A>T NP_001135445.1:p.Thr1120Ser
NM_001141974.3:c.3104-137A>T NP_001135446.1:n.3104-137A>T