Canonical Allele Identifier: CA9467783

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 434443
• ClinVar RCV Id: RCV000502583 ; RCV001857074
• dbSNP Id: rs782227665
• ExAC: 19:42489324 C / T
• gnomAD v2: 19-42489324-C-T
• gnomAD v3: 19-41985172-C-T
• gnomAD v4: 19-41985172-C-T
• MyVariant Identifiers: chr19:g.42489324C>T (hg19) ; chr19:g.41985172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985172C>T , CM000681.2:g.41985172C>T	GRCh38
NC_000019.9:g.42489324C>T , CM000681.1:g.42489324C>T	GRCh37
NC_000019.8:g.47181164C>T	NCBI36
NG_008015.1:g.14059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.778G>A	ENSP00000444688.1:p.Val260Met
ENST00000644613.1:c.739G>A	ENSP00000494711.1:p.Val247Met
ENST00000648268.1:c.739G>A MANE Select	ENSP00000498113.1:p.Val247Met
ENST00000302102.9:c.739G>A	ENSP00000302397.5:p.Val247Met
ENST00000441343.5:c.739G>A	ENSP00000411503.1:p.Val247Met
ENST00000473086.3:c.649G>A	ENSP00000469129.2:p.Val217Met
ENST00000485672.2:n.52G>A
ENST00000543770.5:c.772G>A	ENSP00000437577.1:p.Val258Met
ENST00000545399.5:c.778G>A	ENSP00000444688.1:p.Val260Met
ENST00000602133.5:c.649G>A	ENSP00000471581.1:p.Val217Met
NM_001256213.1:c.772G>A	NP_001243142.1:p.Val258Met
NM_001256214.1:c.778G>A	NP_001243143.1:p.Val260Met
NM_152296.4:c.739G>A	NP_689509.1:p.Val247Met
XM_011526991.1:c.649G>A	XP_011525293.1:p.Val217Met
NM_152296.5:c.739G>A MANE Select	NP_689509.1:p.Val247Met
NM_001256214.2:c.778G>A	NP_001243143.1:p.Val260Met
NM_001256213.2:c.772G>A	NP_001243142.1:p.Val258Met