Canonical Allele Identifier: CA9467795

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1211191
• ClinVar RCV Id: RCV001587669
• dbSNP Id: rs374815666
• ExAC: 19:42489390 A / T
• gnomAD v2: 19-42489390-A-T
• gnomAD v3: 19-41985238-A-T
• gnomAD v4: 19-41985238-A-T
• MyVariant Identifiers: chr19:g.42489390A>T (hg19) ; chr19:g.41985238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985238A>T , CM000681.2:g.41985238A>T	GRCh38
NC_000019.9:g.42489390A>T , CM000681.1:g.42489390A>T	GRCh37
NC_000019.8:g.47181230A>T	NCBI36
NG_008015.1:g.13993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.764-52T>A	ENSP00000444688.1:n.764-52T>A
ENST00000644613.1:c.725-52T>A	ENSP00000494711.1:n.725-52T>A
ENST00000645448.1:n.1024T>A
ENST00000648268.1:c.725-52T>A MANE Select	ENSP00000498113.1:n.725-52T>A
ENST00000302102.9:c.725-52T>A	ENSP00000302397.5:n.725-52T>A
ENST00000441343.5:c.725-52T>A	ENSP00000411503.1:n.725-52T>A
ENST00000473086.3:c.635-52T>A	ENSP00000469129.2:n.635-52T>A
ENST00000485672.2:n.38-52T>A
ENST00000543770.5:c.758-52T>A	ENSP00000437577.1:n.758-52T>A
ENST00000545399.5:c.764-52T>A	ENSP00000444688.1:n.764-52T>A
ENST00000602133.5:c.635-52T>A	ENSP00000471581.1:n.635-52T>A
NM_001256213.1:c.758-52T>A	NP_001243142.1:n.758-52T>A
NM_001256214.1:c.764-52T>A	NP_001243143.1:n.764-52T>A
NM_152296.4:c.725-52T>A	NP_689509.1:n.725-52T>A
XM_011526991.1:c.635-52T>A	XP_011525293.1:n.635-52T>A
NM_152296.5:c.725-52T>A MANE Select	NP_689509.1:n.725-52T>A
NM_001256214.2:c.764-52T>A	NP_001243143.1:n.764-52T>A
NM_001256213.2:c.758-52T>A	NP_001243142.1:n.758-52T>A