Canonical Allele Identifier: CA2758191

Gene: ATP13A4

Linked Data

• dbSNP Id: rs532046116
• ExAC: 3:193166132 A / G
• gnomAD v2: 3-193166132-A-G
• gnomAD v3: 3-193448343-A-G
• gnomAD v4: 3-193448343-A-G
• MyVariant Identifiers: chr3:g.193166132A>G (hg19) ; chr3:g.193448343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448343A>G , CM000665.2:g.193448343A>G	GRCh38
NC_000003.11:g.193166132A>G , CM000665.1:g.193166132A>G	GRCh37
NC_000003.10:g.194648826A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-13T>C MANE Select	ENSP00000339182.4:n.2028-13T>C
ENST00000342695.8:c.2028-13T>C	ENSP00000339182.4:n.2028-13T>C
ENST00000392443.7:c.1971-13T>C	ENSP00000376238.3:n.1971-13T>C
ENST00000428352.5:c.947-13T>C
ENST00000450950.6:c.*1471-13T>C	ENSP00000402023.2:n.*1471-13T>C
ENST00000490925.5:n.2136-13T>C
NM_032279.3:c.2028-13T>C	NP_115655.2:n.2028-13T>C
XM_005247829.2:c.2028-13T>C	XP_005247886.1:n.2028-13T>C
XM_011513232.1:c.2028-13T>C	XP_011511534.1:n.2028-13T>C
XR_241512.2:n.2329-13T>C
XR_924191.1:n.2329-13T>C
XM_011513232.2:c.2028-13T>C	XP_011511534.1:n.2028-13T>C
XM_017007318.1:c.1701-13T>C	XP_016862807.1:n.1701-13T>C
XM_017007319.1:c.2028-13T>C	XP_016862808.1:n.2028-13T>C
XR_001740324.2:n.2098-13T>C
XR_001740325.1:n.2098-13T>C
XR_002959602.1:n.2262-13T>C
XR_924191.3:n.2098-13T>C
NM_032279.4:c.2028-13T>C MANE Select	NP_115655.2:n.2028-13T>C