Canonical Allele Identifier: CA9467759

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1082143
• ClinVar RCV Id: RCV001398348
• dbSNP Id: rs782718686
• ExAC: 19:42489118 G / A
• gnomAD v2: 19-42489118-G-A
• gnomAD v3: 19-41984966-G-A
• gnomAD v4: 19-41984966-G-A
• MyVariant Identifiers: chr19:g.42489118G>A (hg19) ; chr19:g.41984966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984966G>A , CM000681.2:g.41984966G>A	GRCh38
NC_000019.9:g.42489118G>A , CM000681.1:g.42489118G>A	GRCh37
NC_000019.8:g.47180958G>A	NCBI36
NG_008015.1:g.14265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.984C>T	ENSP00000444688.1:p.Ile328=
ENST00000644613.1:c.945C>T	ENSP00000494711.1:p.Ile315=
ENST00000648268.1:c.945C>T MANE Select	ENSP00000498113.1:p.Ile315=
ENST00000302102.9:c.945C>T	ENSP00000302397.5:p.Ile315=
ENST00000441343.5:c.945C>T	ENSP00000411503.1:p.Ile315=
ENST00000485672.2:n.258C>T
ENST00000543770.5:c.978C>T	ENSP00000437577.1:p.Ile326=
ENST00000545399.5:c.984C>T	ENSP00000444688.1:p.Ile328=
ENST00000602133.5:c.855C>T	ENSP00000471581.1:p.Ile285=
NM_001256213.1:c.978C>T	NP_001243142.1:p.Ile326=
NM_001256214.1:c.984C>T	NP_001243143.1:p.Ile328=
NM_152296.4:c.945C>T	NP_689509.1:p.Ile315=
XM_011526991.1:c.855C>T	XP_011525293.1:p.Ile285=
NM_152296.5:c.945C>T MANE Select	NP_689509.1:p.Ile315=
NM_001256214.2:c.984C>T	NP_001243143.1:p.Ile328=
NM_001256213.2:c.978C>T	NP_001243142.1:p.Ile326=