Canonical Allele Identifier: CA1430187652

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467451T= , CM000665.2:g.193467451T=	GRCh38
NC_000003.11:g.193185240T= , CM000665.1:g.193185240T=	GRCh37
NC_000003.10:g.194667934T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.979A= MANE Select	ENSP00000339182.4:p.Lys327=
ENST00000295548.3:c.979A=	ENSP00000295548.3:p.Lys327=
ENST00000342695.8:c.979A=	ENSP00000339182.4:p.Lys327=
ENST00000392443.7:c.979A=	ENSP00000376238.3:p.Lys327=
ENST00000450950.6:c.*422A=	ENSP00000402023.2:n.*422A=
ENST00000490925.5:n.1087A=
NM_032279.3:c.979A=	NP_115655.2:p.Lys327=
XM_005247829.2:c.979A=	XP_005247886.1:p.Lys327=
XM_011513232.1:c.979A=	XP_011511534.1:p.Lys327=
XR_241512.2:n.1280A=
XR_924191.1:n.1280A=
XM_011513232.2:c.979A=	XP_011511534.1:p.Lys327=
XM_017007318.1:c.652A=	XP_016862807.1:p.Lys218=
XM_017007319.1:c.979A=	XP_016862808.1:p.Lys327=
XR_001740324.2:n.1049A=
XR_001740325.1:n.1049A=
XR_002959602.1:n.1213A=
XR_924191.3:n.1049A=
NM_032279.4:c.979A= MANE Select	NP_115655.2:p.Lys327=