Canonical Allele Identifier: CA90514703

Gene: ATP13A4

Linked Data

• dbSNP Id: rs893596634
• gnomAD v4: 3-193467409-C-A
• MyVariant Identifiers: chr3:g.193185198C>A (hg19) ; chr3:g.193467409C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467409C>A , CM000665.2:g.193467409C>A	GRCh38
NC_000003.11:g.193185198C>A , CM000665.1:g.193185198C>A	GRCh37
NC_000003.10:g.194667892C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1021G>T MANE Select	ENSP00000339182.4:p.Asp341Tyr
ENST00000295548.3:c.1021G>T	ENSP00000295548.3:p.Asp341Tyr
ENST00000342695.8:c.1021G>T	ENSP00000339182.4:p.Asp341Tyr
ENST00000392443.7:c.1021G>T	ENSP00000376238.3:p.Asp341Tyr
ENST00000450950.6:c.*464G>T	ENSP00000402023.2:n.*464G>T
ENST00000490925.5:n.1129G>T
NM_032279.3:c.1021G>T	NP_115655.2:p.Asp341Tyr
XM_005247829.2:c.1021G>T	XP_005247886.1:p.Asp341Tyr
XM_011513232.1:c.1021G>T	XP_011511534.1:p.Asp341Tyr
XR_241512.2:n.1322G>T
XR_924191.1:n.1322G>T
XM_011513232.2:c.1021G>T	XP_011511534.1:p.Asp341Tyr
XM_017007318.1:c.694G>T	XP_016862807.1:p.Asp232Tyr
XM_017007319.1:c.1021G>T	XP_016862808.1:p.Asp341Tyr
XR_001740324.2:n.1091G>T
XR_001740325.1:n.1091G>T
XR_002959602.1:n.1255G>T
XR_924191.3:n.1091G>T
NM_032279.4:c.1021G>T MANE Select	NP_115655.2:p.Asp341Tyr