Canonical Allele Identifier: CA406039367

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970419G>A , CM000681.2:g.41970419G>A	GRCh38
NC_000019.9:g.42474571G>A , CM000681.1:g.42474571G>A	GRCh37
NC_000019.8:g.47166411G>A	NCBI36
NG_008015.1:g.28812C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2387C>T MANE Select	NP_689509.1:p.Thr796Ile
ENST00000648268.1:c.2387C>T MANE Select	ENSP00000498113.1:p.Thr796Ile
NM_001256213.1:c.2420C>T	NP_001243142.1:p.Thr807Ile
NM_001256213.2:c.2420C>T	NP_001243142.1:p.Thr807Ile
NM_001256214.1:c.2426C>T	NP_001243143.1:p.Thr809Ile
NM_001256214.2:c.2426C>T	NP_001243143.1:p.Thr809Ile
NM_152296.4:c.2387C>T	NP_689509.1:p.Thr796Ile
ENST00000302102.9:c.2387C>T	ENSP00000302397.5:p.Thr796Ile
ENST00000441343.5:c.2387C>T	ENSP00000411503.1:p.Thr796Ile
ENST00000543770.5:c.2420C>T	ENSP00000437577.1:p.Thr807Ile
ENST00000545399.5:c.2426C>T	ENSP00000444688.1:p.Thr809Ile
ENST00000545399.6:c.2426C>T	ENSP00000444688.1:p.Thr809Ile
ENST00000602133.5:c.2297C>T	ENSP00000471581.1:p.Thr766Ile
ENST00000644613.1:c.2387C>T	ENSP00000494711.1:p.Thr796Ile
XM_011526991.1:c.2297C>T	XP_011525293.1:p.Thr766Ile