Canonical Allele Identifier: CA355784048

Gene: ATP13A4

Linked Data

• MyVariant Identifiers: chr3:g.193185249G>T (hg19) ; chr3:g.193467460G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467460G>T , CM000665.2:g.193467460G>T	GRCh38
NC_000003.11:g.193185249G>T , CM000665.1:g.193185249G>T	GRCh37
NC_000003.10:g.194667943G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.970C>A MANE Select	ENSP00000339182.4:p.Pro324Thr
ENST00000295548.3:c.970C>A	ENSP00000295548.3:p.Pro324Thr
ENST00000342695.8:c.970C>A	ENSP00000339182.4:p.Pro324Thr
ENST00000392443.7:c.970C>A	ENSP00000376238.3:p.Pro324Thr
ENST00000450950.6:c.*413C>A	ENSP00000402023.2:n.*413C>A
ENST00000490925.5:n.1078C>A
NM_032279.3:c.970C>A	NP_115655.2:p.Pro324Thr
XM_005247829.2:c.970C>A	XP_005247886.1:p.Pro324Thr
XM_011513232.1:c.970C>A	XP_011511534.1:p.Pro324Thr
XR_241512.2:n.1271C>A
XR_924191.1:n.1271C>A
XM_011513232.2:c.970C>A	XP_011511534.1:p.Pro324Thr
XM_017007318.1:c.643C>A	XP_016862807.1:p.Pro215Thr
XM_017007319.1:c.970C>A	XP_016862808.1:p.Pro324Thr
XR_001740324.2:n.1040C>A
XR_001740325.1:n.1040C>A
XR_002959602.1:n.1204C>A
XR_924191.3:n.1040C>A
NM_032279.4:c.970C>A MANE Select	NP_115655.2:p.Pro324Thr