Canonical Allele Identifier: CA507582846
Community Standard Title: NM_152296.5(ATP1A3):c.2592A>T (p.Ala864=)
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41969531T>A , CM000681.2:g.41969531T>A GRCh38
NC_000019.9:g.42473683T>A , CM000681.1:g.42473683T>A GRCh37
NC_000019.8:g.47165523T>A NCBI36
NG_008015.1:g.29700A>T

Transcript Alleles

HGVS Amino-acid Change
NM_152296.5:c.2592A>T MANE Select NP_689509.1:p.Ala864=
ENST00000648268.1:c.2592A>T MANE Select ENSP00000498113.1:p.Ala864=
NM_001256213.1:c.2625A>T NP_001243142.1:p.Ala875=
NM_001256213.2:c.2625A>T NP_001243142.1:p.Ala875=
NM_001256214.1:c.2631A>T NP_001243143.1:p.Ala877=
NM_001256214.2:c.2631A>T NP_001243143.1:p.Ala877=
NM_152296.4:c.2592A>T NP_689509.1:p.Ala864=
ENST00000302102.9:c.2592A>T ENSP00000302397.5:p.Ala864=
ENST00000441343.5:c.2592A>T ENSP00000411503.1:p.Ala864=
ENST00000543770.5:c.2625A>T ENSP00000437577.1:p.Ala875=
ENST00000545399.5:c.2631A>T ENSP00000444688.1:p.Ala877=
ENST00000545399.6:c.2631A>T ENSP00000444688.1:p.Ala877=
ENST00000602133.5:c.2502A>T ENSP00000471581.1:p.Ala834=
ENST00000644613.1:c.2592A>T ENSP00000494711.1:p.Ala864=
XM_011526991.1:c.2502A>T XP_011525293.1:p.Ala834=