Canonical Allele Identifier: CA338233269
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986807T>G , CM000663.2:g.16986807T>G GRCh38
NC_000001.10:g.17313302T>G , CM000663.1:g.17313302T>G GRCh37
NC_000001.9:g.17185889T>G NCBI36
NG_009054.1:g.30122A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3233A>C MANE Select ENSP00000327214.8:p.Asn1078Thr
ENST00000326735.12:c.3233A>C ENSP00000327214.8:p.Asn1078Thr
ENST00000341676.9:c.3101A>C ENSP00000341115.5:p.Asn1034Thr
ENST00000452699.5:c.3218A>C ENSP00000413307.1:p.Asn1073Thr
ENST00000466561.1:n.1107A>C
ENST00000502418.1:c.821A>C ENSP00000423065.1:p.Asn274Thr
NM_001141973.2:c.3218A>C NP_001135445.1:p.Asn1073Thr
NM_001141974.2:c.3101A>C NP_001135446.1:p.Asn1034Thr
NM_022089.3:c.3233A>C NP_071372.1:p.Asn1078Thr
XM_005245809.1:c.3233A>C XP_005245866.1:p.Asn1078Thr
XM_005245810.1:c.3230A>C XP_005245867.1:p.Asn1077Thr
XM_005245811.1:c.3218A>C XP_005245868.1:p.Asn1073Thr
XM_005245812.1:c.3206A>C XP_005245869.1:p.Asn1069Thr
XM_005245813.1:c.3173A>C XP_005245870.1:p.Asn1058Thr
XM_005245815.1:c.3116A>C XP_005245872.1:p.Asn1039Thr
XM_006710512.1:c.3215A>C XP_006710575.1:p.Asn1072Thr
XM_006710513.1:c.3191A>C XP_006710576.1:p.Asn1064Thr
XM_011541128.1:c.3218A>C XP_011539430.1:p.Asn1073Thr
XM_011541129.1:c.3026A>C XP_011539431.1:p.Asn1009Thr
XM_017000844.1:c.3218A>C XP_016856333.1:p.Asn1073Thr
XM_017000845.1:c.3215A>C XP_016856334.1:p.Asn1072Thr
XM_017000846.1:c.3191A>C XP_016856335.1:p.Asn1064Thr
XM_017000847.1:c.3188A>C XP_016856336.1:p.Asn1063Thr
XM_017000848.1:c.3116A>C XP_016856337.1:p.Asn1039Thr
XM_017000849.1:c.3101A>C XP_016856338.1:p.Asn1034Thr
XM_017000850.1:c.3026A>C XP_016856339.1:p.Asn1009Thr
NM_022089.4:c.3233A>C MANE Select NP_071372.1:p.Asn1078Thr
NM_001141973.3:c.3218A>C NP_001135445.1:p.Asn1073Thr
NM_001141974.3:c.3101A>C NP_001135446.1:p.Asn1034Thr