Canonical Allele Identifier: CA2336728021
Community Standard Title: NM_152296.5(ATP1A3):c.829G= (p.Glu277=)
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985082C= , CM000681.2:g.41985082C= GRCh38
NC_000019.9:g.42489234C= , CM000681.1:g.42489234C= GRCh37
NC_000019.8:g.47181074C= NCBI36
NG_008015.1:g.14149G=

Transcript Alleles

HGVS Amino-acid Change
NM_152296.5:c.829G= MANE Select NP_689509.1:p.Glu277=
ENST00000648268.1:c.829G= MANE Select ENSP00000498113.1:p.Glu277=
NM_001256213.1:c.862G= NP_001243142.1:p.Glu288=
NM_001256213.2:c.862G= NP_001243142.1:p.Glu288=
NM_001256214.1:c.868G= NP_001243143.1:p.Glu290=
NM_001256214.2:c.868G= NP_001243143.1:p.Glu290=
NM_152296.4:c.829G= NP_689509.1:p.Glu277=
ENST00000302102.9:c.829G= ENSP00000302397.5:p.Glu277=
ENST00000441343.5:c.829G= ENSP00000411503.1:p.Glu277=
ENST00000473086.3:c.739G= ENSP00000469129.2:p.Glu247=
ENST00000485672.2:n.142G=
ENST00000543770.5:c.862G= ENSP00000437577.1:p.Glu288=
ENST00000545399.5:c.868G= ENSP00000444688.1:p.Glu290=
ENST00000545399.6:c.868G= ENSP00000444688.1:p.Glu290=
ENST00000602133.5:c.739G= ENSP00000471581.1:p.Glu247=
ENST00000644613.1:c.829G= ENSP00000494711.1:p.Glu277=
XM_011526991.1:c.739G= XP_011525293.1:p.Glu247=