Canonical Allele Identifier: CA2757736

Gene: ATP13A4

Linked Data

• ClinVar Variation Id: 734313
• ClinVar RCV Id: RCV000909715 ; RCV003923129
• dbSNP Id: rs149270045
• ExAC: 3:193120535 G / A
• gnomAD v2: 3-193120535-G-A
• gnomAD v3: 3-193402746-G-A
• gnomAD v4: 3-193402746-G-A
• MyVariant Identifiers: chr3:g.193120535G>A (hg19) ; chr3:g.193402746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193402746G>A , CM000665.2:g.193402746G>A	GRCh38
NC_000003.11:g.193120535G>A , CM000665.1:g.193120535G>A	GRCh37
NC_000003.10:g.194603229G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.3497C>T MANE Select	ENSP00000339182.4:p.Pro1166Leu
ENST00000342695.8:c.3497C>T	ENSP00000339182.4:p.Pro1166Leu
ENST00000392443.7:c.3440C>T	ENSP00000376238.3:p.Pro1147Leu
ENST00000400270.6:c.545C>T	ENSP00000383129.2:p.Pro182Leu
ENST00000428352.5:c.2388C>T
ENST00000450950.6:c.*2940C>T	ENSP00000402023.2:n.*2940C>T
ENST00000482964.1:n.626C>T
NM_032279.3:c.3497C>T	NP_115655.2:p.Pro1166Leu
XM_017007318.1:c.3170C>T	XP_016862807.1:p.Pro1057Leu
XR_001740324.2:n.3457C>T
XR_924191.3:n.3635C>T
NM_032279.4:c.3497C>T MANE Select	NP_115655.2:p.Pro1166Leu