Canonical Allele Identifier: CA341235

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12911
• ClinVar RCV Id: RCV000013774
• dbSNP Id: rs80356533
• COSMIC: COSM5524621
• MyVariant Identifiers: chr19:g.42489234C>T (hg19) ; chr19:g.41985082C>T (hg38)
• PubMed: PMID:15260953 ; PMID:17282997 ; PMID:20301294 ; PMID:20558373

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985082C>T , CM000681.2:g.41985082C>T	GRCh38
NC_000019.9:g.42489234C>T , CM000681.1:g.42489234C>T	GRCh37
NC_000019.8:g.47181074C>T	NCBI36
NG_008015.1:g.14149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.868G>A	ENSP00000444688.1:p.Glu290Lys
ENST00000644613.1:c.829G>A	ENSP00000494711.1:p.Glu277Lys
ENST00000648268.1:c.829G>A MANE Select	ENSP00000498113.1:p.Glu277Lys
ENST00000302102.9:c.829G>A	ENSP00000302397.5:p.Glu277Lys
ENST00000441343.5:c.829G>A	ENSP00000411503.1:p.Glu277Lys
ENST00000473086.3:c.739G>A	ENSP00000469129.2:p.Glu247Lys
ENST00000485672.2:n.142G>A
ENST00000543770.5:c.862G>A	ENSP00000437577.1:p.Glu288Lys
ENST00000545399.5:c.868G>A	ENSP00000444688.1:p.Glu290Lys
ENST00000602133.5:c.739G>A	ENSP00000471581.1:p.Glu247Lys
NM_001256213.1:c.862G>A	NP_001243142.1:p.Glu288Lys
NM_001256214.1:c.868G>A	NP_001243143.1:p.Glu290Lys
NM_152296.4:c.829G>A	NP_689509.1:p.Glu277Lys
XM_011526991.1:c.739G>A	XP_011525293.1:p.Glu247Lys
NM_152296.5:c.829G>A MANE Select	NP_689509.1:p.Glu277Lys
NM_001256214.2:c.868G>A	NP_001243143.1:p.Glu290Lys
NM_001256213.2:c.862G>A	NP_001243142.1:p.Glu288Lys