Canonical Allele Identifier: CA406042824

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41976465C>T , CM000681.2:g.41976465C>T	GRCh38
NC_000019.9:g.42480617C>T , CM000681.1:g.42480617C>T	GRCh37
NC_000019.8:g.47172457C>T	NCBI36
NG_008015.1:g.22766G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2045G>A MANE Select	NP_689509.1:p.Arg682His
ENST00000648268.1:c.2045G>A MANE Select	ENSP00000498113.1:p.Arg682His
NM_001256213.1:c.2078G>A	NP_001243142.1:p.Arg693His
NM_001256213.2:c.2078G>A	NP_001243142.1:p.Arg693His
NM_001256214.1:c.2084G>A	NP_001243143.1:p.Arg695His
NM_001256214.2:c.2084G>A	NP_001243143.1:p.Arg695His
NM_152296.4:c.2045G>A	NP_689509.1:p.Arg682His
ENST00000302102.9:c.2045G>A	ENSP00000302397.5:p.Arg682His
ENST00000441343.5:c.2045G>A	ENSP00000411503.1:p.Arg682His
ENST00000543770.5:c.2078G>A	ENSP00000437577.1:p.Arg693His
ENST00000545399.5:c.2084G>A	ENSP00000444688.1:p.Arg695His
ENST00000545399.6:c.2084G>A	ENSP00000444688.1:p.Arg695His
ENST00000602133.5:c.1955G>A	ENSP00000471581.1:p.Arg652His
ENST00000644613.1:c.2045G>A	ENSP00000494711.1:p.Arg682His
XM_011526991.1:c.1955G>A	XP_011525293.1:p.Arg652His