Canonical Allele Identifier: CA308586479

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 893054
• ClinVar RCV Id: RCV001130252 ; RCV001130251
• dbSNP Id: rs950336124
• gnomAD v2: 19-42474531-A-T
• gnomAD v3: 19-41970379-A-T
• gnomAD v4: 19-41970379-A-T
• MyVariant Identifiers: chr19:g.42474531A>T (hg19) ; chr19:g.41970379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970379A>T , CM000681.2:g.41970379A>T	GRCh38
NC_000019.9:g.42474531A>T , CM000681.1:g.42474531A>T	GRCh37
NC_000019.8:g.47166371A>T	NCBI36
NG_008015.1:g.28852T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2457+9T>A	ENSP00000444688.1:n.2457+9T>A
ENST00000644613.1:c.2418+9T>A	ENSP00000494711.1:n.2418+9T>A
ENST00000648268.1:c.2418+9T>A MANE Select	ENSP00000498113.1:n.2418+9T>A
ENST00000302102.9:c.2418+9T>A	ENSP00000302397.5:n.2418+9T>A
ENST00000441343.5:c.2418+9T>A	ENSP00000411503.1:n.2418+9T>A
ENST00000543770.5:c.2451+9T>A	ENSP00000437577.1:n.2451+9T>A
ENST00000545399.5:c.2457+9T>A	ENSP00000444688.1:n.2457+9T>A
ENST00000602133.5:c.2328+9T>A	ENSP00000471581.1:n.2328+9T>A
NM_001256213.1:c.2451+9T>A	NP_001243142.1:n.2451+9T>A
NM_001256214.1:c.2457+9T>A	NP_001243143.1:n.2457+9T>A
NM_152296.4:c.2418+9T>A	NP_689509.1:n.2418+9T>A
XM_011526991.1:c.2328+9T>A	XP_011525293.1:n.2328+9T>A
NM_152296.5:c.2418+9T>A MANE Select	NP_689509.1:n.2418+9T>A
NM_001256214.2:c.2457+9T>A	NP_001243143.1:n.2457+9T>A
NM_001256213.2:c.2451+9T>A	NP_001243142.1:n.2451+9T>A