Canonical Allele Identifier: CA406042065

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41975739G>T , CM000681.2:g.41975739G>T	GRCh38
NC_000019.9:g.42479891G>T , CM000681.1:g.42479891G>T	GRCh37
NC_000019.8:g.47171731G>T	NCBI36
NG_008015.1:g.23492C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2153C>A MANE Select	NP_689509.1:p.Ala718Asp
ENST00000648268.1:c.2153C>A MANE Select	ENSP00000498113.1:p.Ala718Asp
NM_001256213.1:c.2186C>A	NP_001243142.1:p.Ala729Asp
NM_001256213.2:c.2186C>A	NP_001243142.1:p.Ala729Asp
NM_001256214.1:c.2192C>A	NP_001243143.1:p.Ala731Asp
NM_001256214.2:c.2192C>A	NP_001243143.1:p.Ala731Asp
NM_152296.4:c.2153C>A	NP_689509.1:p.Ala718Asp
ENST00000302102.9:c.2153C>A	ENSP00000302397.5:p.Ala718Asp
ENST00000441343.5:c.2153C>A	ENSP00000411503.1:p.Ala718Asp
ENST00000543770.5:c.2186C>A	ENSP00000437577.1:p.Ala729Asp
ENST00000545399.5:c.2192C>A	ENSP00000444688.1:p.Ala731Asp
ENST00000545399.6:c.2192C>A	ENSP00000444688.1:p.Ala731Asp
ENST00000602133.5:c.2063C>A	ENSP00000471581.1:p.Ala688Asp
ENST00000644613.1:c.2153C>A	ENSP00000494711.1:p.Ala718Asp
XM_011526991.1:c.2063C>A	XP_011525293.1:p.Ala688Asp