Canonical Allele Identifier: CA338233200
Gene: ATP13A2 HGNC NCBI

Linked Data

gnomAD v4: 1-16986617-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986617G>A , CM000663.2:g.16986617G>A GRCh38
NC_000001.10:g.17313112G>A , CM000663.1:g.17313112G>A GRCh37
NC_000001.9:g.17185699G>A NCBI36
NG_009054.1:g.30312C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3251C>T MANE Select ENSP00000327214.8:p.Ala1084Val
ENST00000326735.12:c.3251C>T ENSP00000327214.8:p.Ala1084Val
ENST00000341676.9:c.3103+188C>T ENSP00000341115.5:n.3103+188C>T
ENST00000452699.5:c.3236C>T ENSP00000413307.1:p.Ala1079Val
ENST00000466561.1:n.1297C>T
ENST00000502418.1:c.823+188C>T ENSP00000423065.1:n.823+188C>T
NM_001141973.2:c.3236C>T NP_001135445.1:p.Ala1079Val
NM_001141974.2:c.3103+188C>T NP_001135446.1:n.3103+188C>T
NM_022089.3:c.3251C>T NP_071372.1:p.Ala1084Val
XM_005245809.1:c.3235+188C>T XP_005245866.1:n.3235+188C>T
XM_005245810.1:c.3232+188C>T XP_005245867.1:n.3232+188C>T
XM_005245811.1:c.3220+188C>T XP_005245868.1:n.3220+188C>T
XM_005245812.1:c.3208+188C>T XP_005245869.1:n.3208+188C>T
XM_005245813.1:c.3175+188C>T XP_005245870.1:n.3175+188C>T
XM_005245815.1:c.3118+188C>T XP_005245872.1:n.3118+188C>T
XM_006710512.1:c.3217+188C>T XP_006710575.1:n.3217+188C>T
XM_006710513.1:c.3193+188C>T XP_006710576.1:n.3193+188C>T
XM_011541128.1:c.3220+188C>T XP_011539430.1:n.3220+188C>T
XM_011541129.1:c.3028+188C>T XP_011539431.1:n.3028+188C>T
XM_017000844.1:c.3236C>T XP_016856333.1:p.Ala1079Val
XM_017000845.1:c.3233C>T XP_016856334.1:p.Ala1078Val
XM_017000846.1:c.3209C>T XP_016856335.1:p.Ala1070Val
XM_017000847.1:c.3206C>T XP_016856336.1:p.Ala1069Val
XM_017000848.1:c.3134C>T XP_016856337.1:p.Ala1045Val
XM_017000849.1:c.3119C>T XP_016856338.1:p.Ala1040Val
XM_017000850.1:c.3044C>T XP_016856339.1:p.Ala1015Val
NM_022089.4:c.3251C>T MANE Select NP_071372.1:p.Ala1084Val
NM_001141973.3:c.3236C>T NP_001135445.1:p.Ala1079Val
NM_001141974.3:c.3103+188C>T NP_001135446.1:n.3103+188C>T