Canonical Allele Identifier: CA89800687

Gene: ATP13A4

Linked Data

• dbSNP Id: rs927384866
• gnomAD v3: 3-193448395-G-A
• gnomAD v4: 3-193448395-G-A
• COSMIC: COSN18717879
• MyVariant Identifiers: chr3:g.193166184G>A (hg19) ; chr3:g.193448395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448395G>A , CM000665.2:g.193448395G>A	GRCh38
NC_000003.11:g.193166184G>A , CM000665.1:g.193166184G>A	GRCh37
NC_000003.10:g.194648878G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-65C>T MANE Select	ENSP00000339182.4:n.2028-65C>T
ENST00000342695.8:c.2028-65C>T	ENSP00000339182.4:n.2028-65C>T
ENST00000392443.7:c.1971-65C>T	ENSP00000376238.3:n.1971-65C>T
ENST00000428352.5:c.947-65C>T
ENST00000450950.6:c.*1471-65C>T	ENSP00000402023.2:n.*1471-65C>T
ENST00000490925.5:n.2136-65C>T
NM_032279.3:c.2028-65C>T	NP_115655.2:n.2028-65C>T
XM_005247829.2:c.2028-65C>T	XP_005247886.1:n.2028-65C>T
XM_011513232.1:c.2028-65C>T	XP_011511534.1:n.2028-65C>T
XR_241512.2:n.2329-65C>T
XR_924191.1:n.2329-65C>T
XM_011513232.2:c.2028-65C>T	XP_011511534.1:n.2028-65C>T
XM_017007318.1:c.1701-65C>T	XP_016862807.1:n.1701-65C>T
XM_017007319.1:c.2028-65C>T	XP_016862808.1:n.2028-65C>T
XR_001740324.2:n.2098-65C>T
XR_001740325.1:n.2098-65C>T
XR_002959602.1:n.2262-65C>T
XR_924191.3:n.2098-65C>T
NM_032279.4:c.2028-65C>T MANE Select	NP_115655.2:n.2028-65C>T