Canonical Allele Identifier: CA9467909
Community Standard Title: NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41988002C>T , CM000681.2:g.41988002C>T GRCh38
NC_000019.9:g.42492154C>T , CM000681.1:g.42492154C>T GRCh37
NC_000019.8:g.47183994C>T NCBI36
NG_008015.1:g.11229G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152296.5:c.291G>A MANE Select NP_689509.1:p.Gly97=
ENST00000648268.1:c.291G>A MANE Select ENSP00000498113.1:p.Gly97=
NM_001256213.1:c.324G>A NP_001243142.1:p.Gly108=
NM_001256213.2:c.324G>A NP_001243142.1:p.Gly108=
NM_001256214.1:c.330G>A NP_001243143.1:p.Gly110=
NM_001256214.2:c.330G>A NP_001243143.1:p.Gly110=
NM_152296.4:c.291G>A NP_689509.1:p.Gly97=
ENST00000302102.9:c.291G>A ENSP00000302397.5:p.Gly97=
ENST00000441343.5:c.291G>A ENSP00000411503.1:p.Gly97=
ENST00000468774.3:n.600G>A
ENST00000473086.3:c.201G>A ENSP00000469129.2:p.Gly67=
ENST00000543770.5:c.324G>A ENSP00000437577.1:p.Gly108=
ENST00000545399.5:c.330G>A ENSP00000444688.1:p.Gly110=
ENST00000545399.6:c.330G>A ENSP00000444688.1:p.Gly110=
ENST00000602133.5:c.201G>A ENSP00000471581.1:p.Gly67=
ENST00000644613.1:c.291G>A ENSP00000494711.1:p.Gly97=
XM_011526991.1:c.201G>A XP_011525293.1:p.Gly67=