Canonical Allele Identifier: CA9467585
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 573096
ClinVar RCV Id: RCV000694671
dbSNP Id: rs367904817

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978303C>G , CM000681.2:g.41978303C>G GRCh38
NC_000019.9:g.42482455C>G , CM000681.1:g.42482455C>G GRCh37
NC_000019.8:g.47174295C>G NCBI36
NG_008015.1:g.20928G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1693G>C ENSP00000444688.1:p.Glu565Gln
ENST00000644613.1:c.1654G>C ENSP00000494711.1:p.Glu552Gln
ENST00000648268.1:c.1654G>C MANE Select ENSP00000498113.1:p.Glu552Gln
ENST00000302102.9:c.1654G>C ENSP00000302397.5:p.Glu552Gln
ENST00000441343.5:c.1654G>C ENSP00000411503.1:p.Glu552Gln
ENST00000543770.5:c.1687G>C ENSP00000437577.1:p.Glu563Gln
ENST00000545399.5:c.1693G>C ENSP00000444688.1:p.Glu565Gln
ENST00000602133.5:c.1564G>C ENSP00000471581.1:p.Glu522Gln
NM_001256213.1:c.1687G>C NP_001243142.1:p.Glu563Gln
NM_001256214.1:c.1693G>C NP_001243143.1:p.Glu565Gln
NM_152296.4:c.1654G>C NP_689509.1:p.Glu552Gln
XM_011526991.1:c.1564G>C XP_011525293.1:p.Glu522Gln
NM_152296.5:c.1654G>C MANE Select NP_689509.1:p.Glu552Gln
NM_001256214.2:c.1693G>C NP_001243143.1:p.Glu565Gln
NM_001256213.2:c.1687G>C NP_001243142.1:p.Glu563Gln