Canonical Allele Identifier: CA416062023
Gene: ATP13A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.17322963C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996468C>A , CM000663.2:g.16996468C>A GRCh38
NC_000001.10:g.17322963C>A , CM000663.1:g.17322963C>A GRCh37
NC_000001.9:g.17195550C>A NCBI36
NG_009054.1:g.20461G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1224G>T MANE Select ENSP00000327214.8:p.Val408=
ENST00000326735.12:c.1224G>T ENSP00000327214.8:p.Val408=
ENST00000341676.9:c.1209G>T ENSP00000341115.5:p.Val403=
ENST00000452699.5:c.1209G>T ENSP00000413307.1:p.Val403=
ENST00000463860.5:n.832G>T
ENST00000502860.1:n.335-168G>T
ENST00000506174.5:c.366G>T ENSP00000424393.1:p.Val122=
ENST00000509392.1:n.227G>T
ENST00000617114.4:c.335-168G>T ENSP00000478781.1:n.335-168G>T
NM_001141973.2:c.1209G>T NP_001135445.1:p.Val403=
NM_001141974.2:c.1209G>T NP_001135446.1:p.Val403=
NM_022089.3:c.1224G>T NP_071372.1:p.Val408=
XM_005245809.1:c.1224G>T XP_005245866.1:p.Val408=
XM_005245810.1:c.1221G>T XP_005245867.1:p.Val407=
XM_005245811.1:c.1209G>T XP_005245868.1:p.Val403=
XM_005245812.1:c.1197G>T XP_005245869.1:p.Val399=
XM_005245813.1:c.1224G>T XP_005245870.1:p.Val408=
XM_005245815.1:c.1224G>T XP_005245872.1:p.Val408=
XM_006710512.1:c.1206G>T XP_006710575.1:p.Val402=
XM_006710513.1:c.1182G>T XP_006710576.1:p.Val394=
XM_011541128.1:c.1224G>T XP_011539430.1:p.Val408=
XM_011541129.1:c.1224G>T XP_011539431.1:p.Val408=
XM_017000844.1:c.1224G>T XP_016856333.1:p.Val408=
XM_017000845.1:c.1206G>T XP_016856334.1:p.Val402=
XM_017000846.1:c.1182G>T XP_016856335.1:p.Val394=
XM_017000847.1:c.1194G>T XP_016856336.1:p.Val398=
XM_017000848.1:c.1224G>T XP_016856337.1:p.Val408=
XM_017000849.1:c.1209G>T XP_016856338.1:p.Val403=
XM_017000850.1:c.1224G>T XP_016856339.1:p.Val408=
NM_022089.4:c.1224G>T MANE Select NP_071372.1:p.Val408=
NM_001141973.3:c.1209G>T NP_001135445.1:p.Val403=
NM_001141974.3:c.1209G>T NP_001135446.1:p.Val403=