Canonical Allele Identifier: CA355801332

Gene: ATP13A3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194431004C>T , CM000665.2:g.194431004C>T	GRCh38
NC_000003.11:g.194151733C>T , CM000665.1:g.194151733C>T	GRCh37
NC_000003.10:g.195633022C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001367549.1:c.2563G>A MANE Select	NP_001354478.1:p.Val855Met
ENST00000645319.2:c.2563G>A MANE Select	ENSP00000494937.2:p.Val855Met
NM_001374836.1:c.2482G>A	NP_001361765.1:p.Val828Met
NM_024524.3:c.2563G>A	NP_078800.3:p.Val855Met
NM_024524.4:c.2563G>A	NP_078800.3:p.Val855Met
NR_164666.1:n.2928G>A
NR_164667.1:n.3088G>A
ENST00000256031.8:c.2563G>A	ENSP00000256031.4:p.Val855Met
ENST00000429136.6:c.97G>A	ENSP00000402550.2:p.Val33Met
ENST00000429136.7:n.409G>A
ENST00000439040.5:c.2563G>A	ENSP00000416508.1:p.Val855Met
ENST00000439040.6:c.2563G>A	ENSP00000416508.1:p.Val855Met
ENST00000484023.1:n.448G>A
ENST00000619199.4:c.1732G>A	ENSP00000482200.1:p.Val578Met
ENST00000642744.1:c.2482G>A	ENSP00000493923.1:p.Val828Met
ENST00000642744.2:c.2563G>A	ENSP00000493923.2:p.Val855Met
ENST00000645538.1:c.2563G>A	ENSP00000494471.1:p.Val855Met
ENST00000645621.1:n.4506G>A
ENST00000685123.1:n.1450G>A
ENST00000687055.1:n.3355G>A
ENST00000690810.1:n.2983G>A
XM_005269357.2:c.2563G>A	XP_005269414.1:p.Val855Met
XM_005269357.3:c.2563G>A	XP_005269414.1:p.Val855Met
XM_005269360.3:c.2563G>A	XP_005269417.1:p.Val855Met
XM_011513120.1:c.2563G>A	XP_011511422.1:p.Val855Met
XM_011513120.2:c.2563G>A	XP_011511422.1:p.Val855Met
XM_011513121.1:c.2563G>A	XP_011511423.1:p.Val855Met
XM_011513122.1:c.2482G>A	XP_011511424.1:p.Val828Met
XM_011513123.1:c.2563G>A	XP_011511425.1:p.Val855Met
XM_011513123.2:c.2563G>A	XP_011511425.1:p.Val855Met
XM_011513124.1:c.2563G>A	XP_011511426.1:p.Val855Met
XM_011513124.3:c.2563G>A	XP_011511426.1:p.Val855Met