Canonical Allele Identifier: CA341237

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12913
• ClinVar RCV Id: RCV000013776
• dbSNP Id: rs80356536
• MyVariant Identifiers: chr19:g.42474620A>G (hg19) ; chr19:g.41970468A>G (hg38)
• PubMed: PMID:15260953 ; PMID:16632466 ; PMID:17282997 ; PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970468A>G , CM000681.2:g.41970468A>G	GRCh38
NC_000019.9:g.42474620A>G , CM000681.1:g.42474620A>G	GRCh37
NC_000019.8:g.47166460A>G	NCBI36
NG_008015.1:g.28763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2377T>C	ENSP00000444688.1:p.Phe793Leu
ENST00000644613.1:c.2338T>C	ENSP00000494711.1:p.Phe780Leu
ENST00000648268.1:c.2338T>C MANE Select	ENSP00000498113.1:p.Phe780Leu
ENST00000302102.9:c.2338T>C	ENSP00000302397.5:p.Phe780Leu
ENST00000441343.5:c.2338T>C	ENSP00000411503.1:p.Phe780Leu
ENST00000543770.5:c.2371T>C	ENSP00000437577.1:p.Phe791Leu
ENST00000545399.5:c.2377T>C	ENSP00000444688.1:p.Phe793Leu
ENST00000602133.5:c.2248T>C	ENSP00000471581.1:p.Phe750Leu
NM_001256213.1:c.2371T>C	NP_001243142.1:p.Phe791Leu
NM_001256214.1:c.2377T>C	NP_001243143.1:p.Phe793Leu
NM_152296.4:c.2338T>C	NP_689509.1:p.Phe780Leu
XM_011526991.1:c.2248T>C	XP_011525293.1:p.Phe750Leu
NM_152296.5:c.2338T>C MANE Select	NP_689509.1:p.Phe780Leu
NM_001256214.2:c.2377T>C	NP_001243143.1:p.Phe793Leu
NM_001256213.2:c.2371T>C	NP_001243142.1:p.Phe791Leu