Canonical Allele Identifier: CA548814201

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1413062567
• gnomAD v2: 3-193166125-A-G
• gnomAD v4: 3-193448336-A-G
• MyVariant Identifiers: chr3:g.193166125A>G (hg19) ; chr3:g.193448336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448336A>G , CM000665.2:g.193448336A>G	GRCh38
NC_000003.11:g.193166125A>G , CM000665.1:g.193166125A>G	GRCh37
NC_000003.10:g.194648819A>G	NCBI36

Transcript Alleles

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