Canonical Allele Identifier: CA9467949

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988343C>T , CM000681.2:g.41988343C>T	GRCh38
NC_000019.9:g.42492495C>T , CM000681.1:g.42492495C>T	GRCh37
NC_000019.8:g.47184335C>T	NCBI36
NG_008015.1:g.10888G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.128G>A MANE Select	NP_689509.1:p.Arg43Gln
ENST00000648268.1:c.128G>A MANE Select	ENSP00000498113.1:p.Arg43Gln
NM_001256213.1:c.161G>A	NP_001243142.1:p.Arg54Gln
NM_001256213.2:c.161G>A	NP_001243142.1:p.Arg54Gln
NM_001256214.1:c.167G>A	NP_001243143.1:p.Arg56Gln
NM_001256214.2:c.167G>A	NP_001243143.1:p.Arg56Gln
NM_152296.4:c.128G>A	NP_689509.1:p.Arg43Gln
ENST00000302102.9:c.128G>A	ENSP00000302397.5:p.Arg43Gln
ENST00000441343.5:c.128G>A	ENSP00000411503.1:p.Arg43Gln
ENST00000465007.1:n.117G>A
ENST00000468774.3:n.437G>A
ENST00000473086.3:c.38G>A	ENSP00000469129.2:p.Arg13Gln
ENST00000543770.5:c.161G>A	ENSP00000437577.1:p.Arg54Gln
ENST00000545399.5:c.167G>A	ENSP00000444688.1:p.Arg56Gln
ENST00000545399.6:c.167G>A	ENSP00000444688.1:p.Arg56Gln
ENST00000602133.5:c.38G>A	ENSP00000471581.1:p.Arg13Gln
ENST00000644613.1:c.128G>A	ENSP00000494711.1:p.Arg43Gln
XM_011526991.1:c.38G>A	XP_011525293.1:p.Arg13Gln