Canonical Allele Identifier: CA247131429

Gene: ATP8A2

Linked Data

• dbSNP Id: rs894456783
• gnomAD v4: 13-25530060-G-A
• MyVariant Identifiers: chr13:g.26104198G>A (hg19) ; chr13:g.25530060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25530060G>A , CM000675.2:g.25530060G>A	GRCh38
NC_000013.10:g.26104198G>A , CM000675.1:g.26104198G>A	GRCh37
NC_000013.9:g.25002198G>A	NCBI36
NG_042855.1:g.163050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281620.11:c.283G>A	ENSP00000281620.7:p.Ala95Thr
ENST00000682472.1:c.283G>A	ENSP00000508103.1:p.Ala95Thr
ENST00000682580.1:n.235G>A
ENST00000682942.1:n.724G>A
ENST00000682943.1:c.222-2212G>A	ENSP00000507323.1:n.222-2212G>A
ENST00000683303.1:c.283G>A	ENSP00000508339.1:p.Ala95Thr
ENST00000683845.1:n.723G>A
ENST00000683945.1:n.195G>A
ENST00000683960.1:c.283G>A	ENSP00000506846.1:p.Ala95Thr
ENST00000684025.1:n.348G>A
ENST00000684283.1:c.283G>A	ENSP00000507994.1:p.Ala95Thr
ENST00000684424.1:c.163G>A	ENSP00000507489.1:p.Ala55Thr
ENST00000381655.7:c.283G>A MANE Select	ENSP00000371070.2:p.Ala95Thr
ENST00000255283.9:c.163G>A	ENSP00000255283.9:p.Ala55Thr
ENST00000281620.10:c.-188G>A	ENSP00000281620.6:n.-188G>A
ENST00000381648.7:n.207G>A
ENST00000381655.6:c.283G>A	ENSP00000371070.2:p.Ala95Thr
NM_001313741.1:c.163G>A	NP_001300670.1:p.Ala55Thr
NM_016529.4:c.283G>A	NP_057613.4:p.Ala95Thr
NM_016529.5:c.283G>A	NP_057613.4:p.Ala95Thr
XM_005266419.1:c.163G>A	XP_005266476.1:p.Ala55Thr
XM_011535103.1:c.283G>A	XP_011533405.1:p.Ala95Thr
XM_011535104.1:c.163G>A	XP_011533406.1:p.Ala55Thr
XM_011535106.1:c.283G>A	XP_011533408.1:p.Ala95Thr
XM_011535107.1:c.283G>A	XP_011533409.1:p.Ala95Thr
XM_011535108.1:c.-198G>A	XP_011533410.1:n.-198G>A
XM_011535109.1:c.-198G>A	XP_011533411.1:n.-198G>A
XM_011535110.1:c.-193G>A	XP_011533412.1:n.-193G>A
XM_011535111.1:c.-193G>A	XP_011533413.1:n.-193G>A
XM_011535112.1:c.-198G>A	XP_011533414.1:n.-198G>A
XM_011535113.1:c.283G>A	XP_011533415.1:p.Ala95Thr
XM_011535114.1:c.283G>A	XP_011533416.1:p.Ala95Thr
XM_011535104.3:c.163G>A	XP_011533406.1:p.Ala55Thr
XM_011535107.3:c.283G>A	XP_011533409.1:p.Ala95Thr
XM_011535109.3:c.-198G>A	XP_011533411.1:n.-198G>A
XM_011535113.2:c.283G>A	XP_011533415.1:p.Ala95Thr
XM_017020625.2:c.283G>A	XP_016876114.1:p.Ala95Thr
XM_017020626.1:c.283G>A	XP_016876115.1:p.Ala95Thr
NM_016529.6:c.283G>A MANE Select	NP_057613.4:p.Ala95Thr