Canonical Allele Identifier: CA406053950
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985329A>T , CM000681.2:g.41985329A>T GRCh38
NC_000019.9:g.42489481A>T , CM000681.1:g.42489481A>T GRCh37
NC_000019.8:g.47181321A>T NCBI36
NG_008015.1:g.13902T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.740T>A ENSP00000444688.1:p.Phe247Tyr
ENST00000644613.1:c.701T>A ENSP00000494711.1:p.Phe234Tyr
ENST00000645448.1:n.933T>A
ENST00000648268.1:c.701T>A MANE Select ENSP00000498113.1:p.Phe234Tyr
ENST00000302102.9:c.701T>A ENSP00000302397.5:p.Phe234Tyr
ENST00000441343.5:c.701T>A ENSP00000411503.1:p.Phe234Tyr
ENST00000473086.3:c.611T>A ENSP00000469129.2:p.Phe204Tyr
ENST00000485672.2:n.14T>A
ENST00000543770.5:c.734T>A ENSP00000437577.1:p.Phe245Tyr
ENST00000545399.5:c.740T>A ENSP00000444688.1:p.Phe247Tyr
ENST00000602133.5:c.611T>A ENSP00000471581.1:p.Phe204Tyr
NM_001256213.1:c.734T>A NP_001243142.1:p.Phe245Tyr
NM_001256214.1:c.740T>A NP_001243143.1:p.Phe247Tyr
NM_152296.4:c.701T>A NP_689509.1:p.Phe234Tyr
XM_011526991.1:c.611T>A XP_011525293.1:p.Phe204Tyr
NM_152296.5:c.701T>A MANE Select NP_689509.1:p.Phe234Tyr
NM_001256214.2:c.740T>A NP_001243143.1:p.Phe247Tyr
NM_001256213.2:c.734T>A NP_001243142.1:p.Phe245Tyr