Canonical Allele Identifier: CA9467977

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988514G>A , CM000681.2:g.41988514G>A	GRCh38
NC_000019.9:g.42492666G>A , CM000681.1:g.42492666G>A	GRCh37
NC_000019.8:g.47184506G>A	NCBI36
NG_008015.1:g.10717C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.55C>T MANE Select	NP_689509.1:p.Arg19Cys
ENST00000648268.1:c.55C>T MANE Select	ENSP00000498113.1:p.Arg19Cys
NM_001256213.1:c.88C>T	NP_001243142.1:p.Arg30Cys
NM_001256213.2:c.88C>T	NP_001243142.1:p.Arg30Cys
NM_001256214.1:c.94C>T	NP_001243143.1:p.Arg32Cys
NM_001256214.2:c.94C>T	NP_001243143.1:p.Arg32Cys
NM_152296.4:c.55C>T	NP_689509.1:p.Arg19Cys
ENST00000302102.9:c.55C>T	ENSP00000302397.5:p.Arg19Cys
ENST00000441343.5:c.55C>T	ENSP00000411503.1:p.Arg19Cys
ENST00000465007.1:n.44C>T
ENST00000468774.3:n.364C>T
ENST00000473086.3:c.-36C>T	ENSP00000469129.2:n.-36C>T
ENST00000543770.5:c.88C>T	ENSP00000437577.1:p.Arg30Cys
ENST00000545399.5:c.94C>T	ENSP00000444688.1:p.Arg32Cys
ENST00000545399.6:c.94C>T	ENSP00000444688.1:p.Arg32Cys
ENST00000602133.5:c.-36C>T	ENSP00000471581.1:n.-36C>T
ENST00000636197.1:c.-36C>T	ENSP00000489877.1:n.-36C>T
ENST00000636258.1:n.76C>T
ENST00000636282.1:n.77C>T
ENST00000637406.1:n.94C>T
ENST00000644613.1:c.55C>T	ENSP00000494711.1:p.Arg19Cys
XM_011526991.1:c.-36C>T	XP_011525293.1:n.-36C>T