Canonical Allele Identifier: CA346031

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 161145
• ClinVar RCV Id: RCV000148326 ; RCV001850014
• dbSNP Id: rs606231441
• MyVariant Identifiers: chr19:g.42474336C>T (hg19) ; chr19:g.41970184C>T (hg38)
• PubMed: PMID:20301294 ; PMID:22850527

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970184C>T , CM000681.2:g.41970184C>T	GRCh38
NC_000019.9:g.42474336C>T , CM000681.1:g.42474336C>T	GRCh37
NC_000019.8:g.47166176C>T	NCBI36
NG_008015.1:g.29047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2581+1G>A	ENSP00000444688.1:n.2581+1G>A
ENST00000644613.1:c.2542+1G>A	ENSP00000494711.1:n.2542+1G>A
ENST00000648268.1:c.2542+1G>A MANE Select	ENSP00000498113.1:n.2542+1G>A
ENST00000302102.9:c.2542+1G>A	ENSP00000302397.5:n.2542+1G>A
ENST00000441343.5:c.2542+1G>A	ENSP00000411503.1:n.2542+1G>A
ENST00000543770.5:c.2575+1G>A	ENSP00000437577.1:n.2575+1G>A
ENST00000545399.5:c.2581+1G>A	ENSP00000444688.1:n.2581+1G>A
ENST00000602133.5:c.2452+1G>A	ENSP00000471581.1:n.2452+1G>A
NM_001256213.1:c.2575+1G>A	NP_001243142.1:n.2575+1G>A
NM_001256214.1:c.2581+1G>A	NP_001243143.1:n.2581+1G>A
NM_152296.4:c.2542+1G>A	NP_689509.1:n.2542+1G>A
XM_011526991.1:c.2452+1G>A	XP_011525293.1:n.2452+1G>A
NM_152296.5:c.2542+1G>A MANE Select	NP_689509.1:n.2542+1G>A
NM_001256214.2:c.2581+1G>A	NP_001243143.1:n.2581+1G>A
NM_001256213.2:c.2575+1G>A	NP_001243142.1:n.2575+1G>A