Canonical Allele Identifier: CA341237
Gene: ATP1A3 HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'