Canonical Allele Identifier: CA2336720943
Community Standard Title: NM_152296.5(ATP1A3):c.2382C= (p.Thr794=)
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970424G= , CM000681.2:g.41970424G= GRCh38
NC_000019.9:g.42474576G= , CM000681.1:g.42474576G= GRCh37
NC_000019.8:g.47166416G= NCBI36
NG_008015.1:g.28807C=

Transcript Alleles

HGVS Amino-acid Change
NM_152296.5:c.2382C= MANE Select NP_689509.1:p.Thr794=
ENST00000648268.1:c.2382C= MANE Select ENSP00000498113.1:p.Thr794=
NM_001256213.1:c.2415C= NP_001243142.1:p.Thr805=
NM_001256213.2:c.2415C= NP_001243142.1:p.Thr805=
NM_001256214.1:c.2421C= NP_001243143.1:p.Thr807=
NM_001256214.2:c.2421C= NP_001243143.1:p.Thr807=
NM_152296.4:c.2382C= NP_689509.1:p.Thr794=
ENST00000302102.9:c.2382C= ENSP00000302397.5:p.Thr794=
ENST00000441343.5:c.2382C= ENSP00000411503.1:p.Thr794=
ENST00000543770.5:c.2415C= ENSP00000437577.1:p.Thr805=
ENST00000545399.5:c.2421C= ENSP00000444688.1:p.Thr807=
ENST00000545399.6:c.2421C= ENSP00000444688.1:p.Thr807=
ENST00000602133.5:c.2292C= ENSP00000471581.1:p.Thr764=
ENST00000644613.1:c.2382C= ENSP00000494711.1:p.Thr794=
XM_011526991.1:c.2292C= XP_011525293.1:p.Thr764=