Canonical Allele Identifier: CA2758551

Gene: ATP13A4

Linked Data

• dbSNP Id: rs142240483
• ExAC: 3:193185248 G / A
• gnomAD v2: 3-193185248-G-A
• gnomAD v3: 3-193467459-G-A
• gnomAD v4: 3-193467459-G-A
• MyVariant Identifiers: chr3:g.193185248G>A (hg19) ; chr3:g.193467459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467459G>A , CM000665.2:g.193467459G>A	GRCh38
NC_000003.11:g.193185248G>A , CM000665.1:g.193185248G>A	GRCh37
NC_000003.10:g.194667942G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.971C>T MANE Select	ENSP00000339182.4:p.Pro324Leu
ENST00000295548.3:c.971C>T	ENSP00000295548.3:p.Pro324Leu
ENST00000342695.8:c.971C>T	ENSP00000339182.4:p.Pro324Leu
ENST00000392443.7:c.971C>T	ENSP00000376238.3:p.Pro324Leu
ENST00000450950.6:c.*414C>T	ENSP00000402023.2:n.*414C>T
ENST00000490925.5:n.1079C>T
NM_032279.3:c.971C>T	NP_115655.2:p.Pro324Leu
XM_005247829.2:c.971C>T	XP_005247886.1:p.Pro324Leu
XM_011513232.1:c.971C>T	XP_011511534.1:p.Pro324Leu
XR_241512.2:n.1272C>T
XR_924191.1:n.1272C>T
XM_011513232.2:c.971C>T	XP_011511534.1:p.Pro324Leu
XM_017007318.1:c.644C>T	XP_016862807.1:p.Pro215Leu
XM_017007319.1:c.971C>T	XP_016862808.1:p.Pro324Leu
XR_001740324.2:n.1041C>T
XR_001740325.1:n.1041C>T
XR_002959602.1:n.1205C>T
XR_924191.3:n.1041C>T
NM_032279.4:c.971C>T MANE Select	NP_115655.2:p.Pro324Leu