Canonical Allele Identifier: CA338254790
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs1388438557

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996466C>G , CM000663.2:g.16996466C>G GRCh38
NC_000001.10:g.17322961C>G , CM000663.1:g.17322961C>G GRCh37
NC_000001.9:g.17195548C>G NCBI36
NG_009054.1:g.20463G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1226G>C MANE Select ENSP00000327214.8:p.Ser409Thr
ENST00000326735.12:c.1226G>C ENSP00000327214.8:p.Ser409Thr
ENST00000341676.9:c.1211G>C ENSP00000341115.5:p.Ser404Thr
ENST00000452699.5:c.1211G>C ENSP00000413307.1:p.Ser404Thr
ENST00000463860.5:n.834G>C
ENST00000502860.1:n.335-166G>C
ENST00000506174.5:c.368G>C ENSP00000424393.1:p.Ser123Thr
ENST00000509392.1:n.229G>C
ENST00000617114.4:c.335-166G>C ENSP00000478781.1:n.335-166G>C
NM_001141973.2:c.1211G>C NP_001135445.1:p.Ser404Thr
NM_001141974.2:c.1211G>C NP_001135446.1:p.Ser404Thr
NM_022089.3:c.1226G>C NP_071372.1:p.Ser409Thr
XM_005245809.1:c.1226G>C XP_005245866.1:p.Ser409Thr
XM_005245810.1:c.1223G>C XP_005245867.1:p.Ser408Thr
XM_005245811.1:c.1211G>C XP_005245868.1:p.Ser404Thr
XM_005245812.1:c.1199G>C XP_005245869.1:p.Ser400Thr
XM_005245813.1:c.1226G>C XP_005245870.1:p.Ser409Thr
XM_005245815.1:c.1226G>C XP_005245872.1:p.Ser409Thr
XM_006710512.1:c.1208G>C XP_006710575.1:p.Ser403Thr
XM_006710513.1:c.1184G>C XP_006710576.1:p.Ser395Thr
XM_011541128.1:c.1226G>C XP_011539430.1:p.Ser409Thr
XM_011541129.1:c.1226G>C XP_011539431.1:p.Ser409Thr
XM_017000844.1:c.1226G>C XP_016856333.1:p.Ser409Thr
XM_017000845.1:c.1208G>C XP_016856334.1:p.Ser403Thr
XM_017000846.1:c.1184G>C XP_016856335.1:p.Ser395Thr
XM_017000847.1:c.1196G>C XP_016856336.1:p.Ser399Thr
XM_017000848.1:c.1226G>C XP_016856337.1:p.Ser409Thr
XM_017000849.1:c.1211G>C XP_016856338.1:p.Ser404Thr
XM_017000850.1:c.1226G>C XP_016856339.1:p.Ser409Thr
NM_022089.4:c.1226G>C MANE Select NP_071372.1:p.Ser409Thr
NM_001141973.3:c.1211G>C NP_001135445.1:p.Ser404Thr
NM_001141974.3:c.1211G>C NP_001135446.1:p.Ser404Thr