Canonical Allele Identifier: CA507586844

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2805906
• ClinVar RCV Id: RCV003627746
• dbSNP Id: rs1397191126
• gnomAD v2: 19-42482219-G-T
• gnomAD v4: 19-41978067-G-T
• MyVariant Identifiers: chr19:g.42482219G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978067G>T , CM000681.2:g.41978067G>T	GRCh38
NC_000019.9:g.42482219G>T , CM000681.1:g.42482219G>T	GRCh37
NC_000019.8:g.47174059G>T	NCBI36
NG_008015.1:g.21164C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1851C>A	ENSP00000444688.1:p.Ile617=
ENST00000644613.1:c.1812C>A	ENSP00000494711.1:p.Ile604=
ENST00000648268.1:c.1812C>A MANE Select	ENSP00000498113.1:p.Ile604=
ENST00000302102.9:c.1812C>A	ENSP00000302397.5:p.Ile604=
ENST00000441343.5:c.1812C>A	ENSP00000411503.1:p.Ile604=
ENST00000543770.5:c.1845C>A	ENSP00000437577.1:p.Ile615=
ENST00000545399.5:c.1851C>A	ENSP00000444688.1:p.Ile617=
ENST00000602133.5:c.1722C>A	ENSP00000471581.1:p.Ile574=
NM_001256213.1:c.1845C>A	NP_001243142.1:p.Ile615=
NM_001256214.1:c.1851C>A	NP_001243143.1:p.Ile617=
NM_152296.4:c.1812C>A	NP_689509.1:p.Ile604=
XM_011526991.1:c.1722C>A	XP_011525293.1:p.Ile574=
NM_152296.5:c.1812C>A MANE Select	NP_689509.1:p.Ile604=
NM_001256214.2:c.1851C>A	NP_001243143.1:p.Ile617=
NM_001256213.2:c.1845C>A	NP_001243142.1:p.Ile615=