Canonical Allele Identifier: CA406039382

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970423T>A , CM000681.2:g.41970423T>A	GRCh38
NC_000019.9:g.42474575T>A , CM000681.1:g.42474575T>A	GRCh37
NC_000019.8:g.47166415T>A	NCBI36
NG_008015.1:g.28808A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2383A>T MANE Select	NP_689509.1:p.Ile795Phe
ENST00000648268.1:c.2383A>T MANE Select	ENSP00000498113.1:p.Ile795Phe
NM_001256213.1:c.2416A>T	NP_001243142.1:p.Ile806Phe
NM_001256213.2:c.2416A>T	NP_001243142.1:p.Ile806Phe
NM_001256214.1:c.2422A>T	NP_001243143.1:p.Ile808Phe
NM_001256214.2:c.2422A>T	NP_001243143.1:p.Ile808Phe
NM_152296.4:c.2383A>T	NP_689509.1:p.Ile795Phe
ENST00000302102.9:c.2383A>T	ENSP00000302397.5:p.Ile795Phe
ENST00000441343.5:c.2383A>T	ENSP00000411503.1:p.Ile795Phe
ENST00000543770.5:c.2416A>T	ENSP00000437577.1:p.Ile806Phe
ENST00000545399.5:c.2422A>T	ENSP00000444688.1:p.Ile808Phe
ENST00000545399.6:c.2422A>T	ENSP00000444688.1:p.Ile808Phe
ENST00000602133.5:c.2293A>T	ENSP00000471581.1:p.Ile765Phe
ENST00000644613.1:c.2383A>T	ENSP00000494711.1:p.Ile795Phe
XM_011526991.1:c.2293A>T	XP_011525293.1:p.Ile765Phe