Canonical Allele Identifier: CA2759944877

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448396G>A , CM000665.2:g.193448396G>A	GRCh38
NC_000003.11:g.193166185G>A , CM000665.1:g.193166185G>A	GRCh37
NC_000003.10:g.194648879G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-66C>T MANE Select	ENSP00000339182.4:n.2028-66C>T
ENST00000342695.8:c.2028-66C>T	ENSP00000339182.4:n.2028-66C>T
ENST00000392443.7:c.1971-66C>T	ENSP00000376238.3:n.1971-66C>T
ENST00000428352.5:c.947-66C>T
ENST00000450950.6:c.*1471-66C>T	ENSP00000402023.2:n.*1471-66C>T
ENST00000490925.5:n.2136-66C>T
NM_032279.3:c.2028-66C>T	NP_115655.2:n.2028-66C>T
XM_005247829.2:c.2028-66C>T	XP_005247886.1:n.2028-66C>T
XM_011513232.1:c.2028-66C>T	XP_011511534.1:n.2028-66C>T
XR_241512.2:n.2329-66C>T
XR_924191.1:n.2329-66C>T
XM_011513232.2:c.2028-66C>T	XP_011511534.1:n.2028-66C>T
XM_017007318.1:c.1701-66C>T	XP_016862807.1:n.1701-66C>T
XM_017007319.1:c.2028-66C>T	XP_016862808.1:n.2028-66C>T
XR_001740324.2:n.2098-66C>T
XR_001740325.1:n.2098-66C>T
XR_002959602.1:n.2262-66C>T
XR_924191.3:n.2098-66C>T
NM_032279.4:c.2028-66C>T MANE Select	NP_115655.2:n.2028-66C>T