Canonical Allele Identifier: CA406054052
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985357T>A , CM000681.2:g.41985357T>A GRCh38
NC_000019.9:g.42489509T>A , CM000681.1:g.42489509T>A GRCh37
NC_000019.8:g.47181349T>A NCBI36
NG_008015.1:g.13874A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.712A>T ENSP00000444688.1:p.Asn238Tyr
ENST00000644613.1:c.673A>T ENSP00000494711.1:p.Asn225Tyr
ENST00000645448.1:n.905A>T
ENST00000648268.1:c.673A>T MANE Select ENSP00000498113.1:p.Asn225Tyr
ENST00000302102.9:c.673A>T ENSP00000302397.5:p.Asn225Tyr
ENST00000441343.5:c.673A>T ENSP00000411503.1:p.Asn225Tyr
ENST00000473086.3:c.583A>T ENSP00000469129.2:p.Asn195Tyr
ENST00000543770.5:c.706A>T ENSP00000437577.1:p.Asn236Tyr
ENST00000545399.5:c.712A>T ENSP00000444688.1:p.Asn238Tyr
ENST00000602133.5:c.583A>T ENSP00000471581.1:p.Asn195Tyr
NM_001256213.1:c.706A>T NP_001243142.1:p.Asn236Tyr
NM_001256214.1:c.712A>T NP_001243143.1:p.Asn238Tyr
NM_152296.4:c.673A>T NP_689509.1:p.Asn225Tyr
XM_011526991.1:c.583A>T XP_011525293.1:p.Asn195Tyr
NM_152296.5:c.673A>T MANE Select NP_689509.1:p.Asn225Tyr
NM_001256214.2:c.712A>T NP_001243143.1:p.Asn238Tyr
NM_001256213.2:c.706A>T NP_001243142.1:p.Asn236Tyr