Canonical Allele Identifier: CA406054086

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2431681
• ClinVar RCV Id: RCV003142317
• MyVariant Identifiers: chr19:g.42489523T>A (hg19) ; chr19:g.41985371T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985371T>A , CM000681.2:g.41985371T>A	GRCh38
NC_000019.9:g.42489523T>A , CM000681.1:g.42489523T>A	GRCh37
NC_000019.8:g.47181363T>A	NCBI36
NG_008015.1:g.13860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.698A>T	ENSP00000444688.1:p.Asp233Val
ENST00000644613.1:c.659A>T	ENSP00000494711.1:p.Asp220Val
ENST00000645448.1:n.891A>T
ENST00000648268.1:c.659A>T MANE Select	ENSP00000498113.1:p.Asp220Val
ENST00000302102.9:c.659A>T	ENSP00000302397.5:p.Asp220Val
ENST00000441343.5:c.659A>T	ENSP00000411503.1:p.Asp220Val
ENST00000473086.3:c.569A>T	ENSP00000469129.2:p.Asp190Val
ENST00000543770.5:c.692A>T	ENSP00000437577.1:p.Asp231Val
ENST00000545399.5:c.698A>T	ENSP00000444688.1:p.Asp233Val
ENST00000602133.5:c.569A>T	ENSP00000471581.1:p.Asp190Val
NM_001256213.1:c.692A>T	NP_001243142.1:p.Asp231Val
NM_001256214.1:c.698A>T	NP_001243143.1:p.Asp233Val
NM_152296.4:c.659A>T	NP_689509.1:p.Asp220Val
XM_011526991.1:c.569A>T	XP_011525293.1:p.Asp190Val
NM_152296.5:c.659A>T MANE Select	NP_689509.1:p.Asp220Val
NM_001256214.2:c.698A>T	NP_001243143.1:p.Asp233Val
NM_001256213.2:c.692A>T	NP_001243142.1:p.Asp231Val