Canonical Allele Identifier: CA338233223
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs773379849
gnomAD v4: 1-16986629-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986629G>A , CM000663.2:g.16986629G>A GRCh38
NC_000001.10:g.17313124G>A , CM000663.1:g.17313124G>A GRCh37
NC_000001.9:g.17185711G>A NCBI36
NG_009054.1:g.30300C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3239C>T MANE Select ENSP00000327214.8:p.Pro1080Leu
ENST00000326735.12:c.3239C>T ENSP00000327214.8:p.Pro1080Leu
ENST00000341676.9:c.3103+176C>T ENSP00000341115.5:n.3103+176C>T
ENST00000452699.5:c.3224C>T ENSP00000413307.1:p.Pro1075Leu
ENST00000466561.1:n.1285C>T
ENST00000502418.1:c.823+176C>T ENSP00000423065.1:n.823+176C>T
NM_001141973.2:c.3224C>T NP_001135445.1:p.Pro1075Leu
NM_001141974.2:c.3103+176C>T NP_001135446.1:n.3103+176C>T
NM_022089.3:c.3239C>T NP_071372.1:p.Pro1080Leu
XM_005245809.1:c.3235+176C>T XP_005245866.1:n.3235+176C>T
XM_005245810.1:c.3232+176C>T XP_005245867.1:n.3232+176C>T
XM_005245811.1:c.3220+176C>T XP_005245868.1:n.3220+176C>T
XM_005245812.1:c.3208+176C>T XP_005245869.1:n.3208+176C>T
XM_005245813.1:c.3175+176C>T XP_005245870.1:n.3175+176C>T
XM_005245815.1:c.3118+176C>T XP_005245872.1:n.3118+176C>T
XM_006710512.1:c.3217+176C>T XP_006710575.1:n.3217+176C>T
XM_006710513.1:c.3193+176C>T XP_006710576.1:n.3193+176C>T
XM_011541128.1:c.3220+176C>T XP_011539430.1:n.3220+176C>T
XM_011541129.1:c.3028+176C>T XP_011539431.1:n.3028+176C>T
XM_017000844.1:c.3224C>T XP_016856333.1:p.Pro1075Leu
XM_017000845.1:c.3221C>T XP_016856334.1:p.Pro1074Leu
XM_017000846.1:c.3197C>T XP_016856335.1:p.Pro1066Leu
XM_017000847.1:c.3194C>T XP_016856336.1:p.Pro1065Leu
XM_017000848.1:c.3122C>T XP_016856337.1:p.Pro1041Leu
XM_017000849.1:c.3107C>T XP_016856338.1:p.Pro1036Leu
XM_017000850.1:c.3032C>T XP_016856339.1:p.Pro1011Leu
NM_022089.4:c.3239C>T MANE Select NP_071372.1:p.Pro1080Leu
NM_001141973.3:c.3224C>T NP_001135445.1:p.Pro1075Leu
NM_001141974.3:c.3103+176C>T NP_001135446.1:n.3103+176C>T