Canonical Allele Identifier: CA507695408

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2118074
• ClinVar RCV Id: RCV003030295
• dbSNP Id: rs1555864807
• gnomAD v2: 19-42489136-C-T
• gnomAD v4: 19-41984984-C-T
• MyVariant Identifiers: chr19:g.42489136C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984984C>T , CM000681.2:g.41984984C>T	GRCh38
NC_000019.9:g.42489136C>T , CM000681.1:g.42489136C>T	GRCh37
NC_000019.8:g.47180976C>T	NCBI36
NG_008015.1:g.14247G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.966G>A	ENSP00000444688.1:p.Glu322=
ENST00000644613.1:c.927G>A	ENSP00000494711.1:p.Glu309=
ENST00000648268.1:c.927G>A MANE Select	ENSP00000498113.1:p.Glu309=
ENST00000302102.9:c.927G>A	ENSP00000302397.5:p.Glu309=
ENST00000441343.5:c.927G>A	ENSP00000411503.1:p.Glu309=
ENST00000485672.2:n.240G>A
ENST00000543770.5:c.960G>A	ENSP00000437577.1:p.Glu320=
ENST00000545399.5:c.966G>A	ENSP00000444688.1:p.Glu322=
ENST00000602133.5:c.837G>A	ENSP00000471581.1:p.Glu279=
NM_001256213.1:c.960G>A	NP_001243142.1:p.Glu320=
NM_001256214.1:c.966G>A	NP_001243143.1:p.Glu322=
NM_152296.4:c.927G>A	NP_689509.1:p.Glu309=
XM_011526991.1:c.837G>A	XP_011525293.1:p.Glu279=
NM_152296.5:c.927G>A MANE Select	NP_689509.1:p.Glu309=
NM_001256214.2:c.966G>A	NP_001243143.1:p.Glu322=
NM_001256213.2:c.960G>A	NP_001243142.1:p.Glu320=