Canonical Allele Identifier: CA406045329

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1712113
• ClinVar RCV Id: RCV002293831
• dbSNP Id: rs1555862017
• gnomAD v2: 19-42482224-C-T
• gnomAD v4: 19-41978072-C-T
• MyVariant Identifiers: chr19:g.42482224C>T (hg19) ; chr19:g.41978072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978072C>T , CM000681.2:g.41978072C>T	GRCh38
NC_000019.9:g.42482224C>T , CM000681.1:g.42482224C>T	GRCh37
NC_000019.8:g.47174064C>T	NCBI36
NG_008015.1:g.21159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1846G>A	ENSP00000444688.1:p.Val616Ile
ENST00000644613.1:c.1807G>A	ENSP00000494711.1:p.Val603Ile
ENST00000648268.1:c.1807G>A MANE Select	ENSP00000498113.1:p.Val603Ile
ENST00000302102.9:c.1807G>A	ENSP00000302397.5:p.Val603Ile
ENST00000441343.5:c.1807G>A	ENSP00000411503.1:p.Val603Ile
ENST00000543770.5:c.1840G>A	ENSP00000437577.1:p.Val614Ile
ENST00000545399.5:c.1846G>A	ENSP00000444688.1:p.Val616Ile
ENST00000602133.5:c.1717G>A	ENSP00000471581.1:p.Val573Ile
NM_001256213.1:c.1840G>A	NP_001243142.1:p.Val614Ile
NM_001256214.1:c.1846G>A	NP_001243143.1:p.Val616Ile
NM_152296.4:c.1807G>A	NP_689509.1:p.Val603Ile
XM_011526991.1:c.1717G>A	XP_011525293.1:p.Val573Ile
NM_152296.5:c.1807G>A MANE Select	NP_689509.1:p.Val603Ile
NM_001256214.2:c.1846G>A	NP_001243143.1:p.Val616Ile
NM_001256213.2:c.1840G>A	NP_001243142.1:p.Val614Ile