Canonical Allele Identifier: CA355802501

Gene: ATP13A3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194433790G>A , CM000665.2:g.194433790G>A	GRCh38
NC_000003.11:g.194154519G>A , CM000665.1:g.194154519G>A	GRCh37
NC_000003.10:g.195635808G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001367549.1:c.2227C>T MANE Select	NP_001354478.1:p.Arg743Cys
ENST00000645319.2:c.2227C>T MANE Select	ENSP00000494937.2:p.Arg743Cys
NM_001374836.1:c.2146C>T	NP_001361765.1:p.Arg716Cys
NM_024524.3:c.2227C>T	NP_078800.3:p.Arg743Cys
NM_024524.4:c.2227C>T	NP_078800.3:p.Arg743Cys
NR_164666.1:n.2592C>T
NR_164667.1:n.2752C>T
ENST00000256031.8:c.2227C>T	ENSP00000256031.4:p.Arg743Cys
ENST00000439040.5:c.2227C>T	ENSP00000416508.1:p.Arg743Cys
ENST00000439040.6:c.2227C>T	ENSP00000416508.1:p.Arg743Cys
ENST00000619199.4:c.1396C>T	ENSP00000482200.1:p.Arg466Cys
ENST00000642744.1:c.2146C>T	ENSP00000493923.1:p.Arg716Cys
ENST00000642744.2:c.2227C>T	ENSP00000493923.2:p.Arg743Cys
ENST00000645538.1:c.2227C>T	ENSP00000494471.1:p.Arg743Cys
ENST00000645621.1:n.4170C>T
ENST00000687055.1:n.3019C>T
ENST00000690382.1:n.4170C>T
ENST00000690408.1:n.836C>T
ENST00000690810.1:n.2647C>T
XM_005269357.2:c.2227C>T	XP_005269414.1:p.Arg743Cys
XM_005269357.3:c.2227C>T	XP_005269414.1:p.Arg743Cys
XM_005269360.3:c.2227C>T	XP_005269417.1:p.Arg743Cys
XM_011513120.1:c.2227C>T	XP_011511422.1:p.Arg743Cys
XM_011513120.2:c.2227C>T	XP_011511422.1:p.Arg743Cys
XM_011513121.1:c.2227C>T	XP_011511423.1:p.Arg743Cys
XM_011513122.1:c.2146C>T	XP_011511424.1:p.Arg716Cys
XM_011513123.1:c.2227C>T	XP_011511425.1:p.Arg743Cys
XM_011513123.2:c.2227C>T	XP_011511425.1:p.Arg743Cys
XM_011513124.1:c.2227C>T	XP_011511426.1:p.Arg743Cys
XM_011513124.3:c.2227C>T	XP_011511426.1:p.Arg743Cys