Canonical Allele Identifier: CA9467372
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 434442
dbSNP Id: rs368371895

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970238C>T , CM000681.2:g.41970238C>T GRCh38
NC_000019.9:g.42474390C>T , CM000681.1:g.42474390C>T GRCh37
NC_000019.8:g.47166230C>T NCBI36
NG_008015.1:g.28993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.2528G>A ENSP00000444688.1:p.Arg843Gln
ENST00000644613.1:c.2489G>A ENSP00000494711.1:p.Arg830Gln
ENST00000648268.1:c.2489G>A MANE Select ENSP00000498113.1:p.Arg830Gln
ENST00000302102.9:c.2489G>A ENSP00000302397.5:p.Arg830Gln
ENST00000441343.5:c.2489G>A ENSP00000411503.1:p.Arg830Gln
ENST00000543770.5:c.2522G>A ENSP00000437577.1:p.Arg841Gln
ENST00000545399.5:c.2528G>A ENSP00000444688.1:p.Arg843Gln
ENST00000602133.5:c.2399G>A ENSP00000471581.1:p.Arg800Gln
NM_001256213.1:c.2522G>A NP_001243142.1:p.Arg841Gln
NM_001256214.1:c.2528G>A NP_001243143.1:p.Arg843Gln
NM_152296.4:c.2489G>A NP_689509.1:p.Arg830Gln
XM_011526991.1:c.2399G>A XP_011525293.1:p.Arg800Gln
NM_152296.5:c.2489G>A MANE Select NP_689509.1:p.Arg830Gln
NM_001256214.2:c.2528G>A NP_001243143.1:p.Arg843Gln
NM_001256213.2:c.2522G>A NP_001243142.1:p.Arg841Gln