Canonical Allele Identifier: CA355784073

Gene: ATP13A4

Linked Data

• gnomAD v4: 3-193467474-G-T
• MyVariant Identifiers: chr3:g.193185263G>T (hg19) ; chr3:g.193467474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467474G>T , CM000665.2:g.193467474G>T	GRCh38
NC_000003.11:g.193185263G>T , CM000665.1:g.193185263G>T	GRCh37
NC_000003.10:g.194667957G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.956C>A MANE Select	ENSP00000339182.4:p.Pro319Gln
ENST00000295548.3:c.956C>A	ENSP00000295548.3:p.Pro319Gln
ENST00000342695.8:c.956C>A	ENSP00000339182.4:p.Pro319Gln
ENST00000392443.7:c.956C>A	ENSP00000376238.3:p.Pro319Gln
ENST00000450950.6:c.*399C>A	ENSP00000402023.2:n.*399C>A
ENST00000490925.5:n.1064C>A
NM_032279.3:c.956C>A	NP_115655.2:p.Pro319Gln
XM_005247829.2:c.956C>A	XP_005247886.1:p.Pro319Gln
XM_011513232.1:c.956C>A	XP_011511534.1:p.Pro319Gln
XR_241512.2:n.1257C>A
XR_924191.1:n.1257C>A
XM_011513232.2:c.956C>A	XP_011511534.1:p.Pro319Gln
XM_017007318.1:c.629C>A	XP_016862807.1:p.Pro210Gln
XM_017007319.1:c.956C>A	XP_016862808.1:p.Pro319Gln
XR_001740324.2:n.1026C>A
XR_001740325.1:n.1026C>A
XR_002959602.1:n.1190C>A
XR_924191.3:n.1026C>A
NM_032279.4:c.956C>A MANE Select	NP_115655.2:p.Pro319Gln