Canonical Allele Identifier: CA2758542

Gene: ATP13A4

Linked Data

• dbSNP Id: rs779343929
• ExAC: 3:193185206 C / T
• gnomAD v2: 3-193185206-C-T
• gnomAD v4: 3-193467417-C-T
• MyVariant Identifiers: chr3:g.193185206C>T (hg19) ; chr3:g.193467417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467417C>T , CM000665.2:g.193467417C>T	GRCh38
NC_000003.11:g.193185206C>T , CM000665.1:g.193185206C>T	GRCh37
NC_000003.10:g.194667900C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1013G>A MANE Select	ENSP00000339182.4:p.Ser338Asn
ENST00000295548.3:c.1013G>A	ENSP00000295548.3:p.Ser338Asn
ENST00000342695.8:c.1013G>A	ENSP00000339182.4:p.Ser338Asn
ENST00000392443.7:c.1013G>A	ENSP00000376238.3:p.Ser338Asn
ENST00000450950.6:c.*456G>A	ENSP00000402023.2:n.*456G>A
ENST00000490925.5:n.1121G>A
NM_032279.3:c.1013G>A	NP_115655.2:p.Ser338Asn
XM_005247829.2:c.1013G>A	XP_005247886.1:p.Ser338Asn
XM_011513232.1:c.1013G>A	XP_011511534.1:p.Ser338Asn
XR_241512.2:n.1314G>A
XR_924191.1:n.1314G>A
XM_011513232.2:c.1013G>A	XP_011511534.1:p.Ser338Asn
XM_017007318.1:c.686G>A	XP_016862807.1:p.Ser229Asn
XM_017007319.1:c.1013G>A	XP_016862808.1:p.Ser338Asn
XR_001740324.2:n.1083G>A
XR_001740325.1:n.1083G>A
XR_002959602.1:n.1247G>A
XR_924191.3:n.1083G>A
NM_032279.4:c.1013G>A MANE Select	NP_115655.2:p.Ser338Asn