Canonical Allele Identifier: CA437430987

Gene: ATP13A4

Linked Data

• MyVariant Identifiers: chr3:g.193185220G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467431G>T , CM000665.2:g.193467431G>T	GRCh38
NC_000003.11:g.193185220G>T , CM000665.1:g.193185220G>T	GRCh37
NC_000003.10:g.194667914G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.999C>A MANE Select	ENSP00000339182.4:p.Pro333=
ENST00000295548.3:c.999C>A	ENSP00000295548.3:p.Pro333=
ENST00000342695.8:c.999C>A	ENSP00000339182.4:p.Pro333=
ENST00000392443.7:c.999C>A	ENSP00000376238.3:p.Pro333=
ENST00000450950.6:c.*442C>A	ENSP00000402023.2:n.*442C>A
ENST00000490925.5:n.1107C>A
NM_032279.3:c.999C>A	NP_115655.2:p.Pro333=
XM_005247829.2:c.999C>A	XP_005247886.1:p.Pro333=
XM_011513232.1:c.999C>A	XP_011511534.1:p.Pro333=
XR_241512.2:n.1300C>A
XR_924191.1:n.1300C>A
XM_011513232.2:c.999C>A	XP_011511534.1:p.Pro333=
XM_017007318.1:c.672C>A	XP_016862807.1:p.Pro224=
XM_017007319.1:c.999C>A	XP_016862808.1:p.Pro333=
XR_001740324.2:n.1069C>A
XR_001740325.1:n.1069C>A
XR_002959602.1:n.1233C>A
XR_924191.3:n.1069C>A
NM_032279.4:c.999C>A MANE Select	NP_115655.2:p.Pro333=