Canonical Allele Identifier: CA342902

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970405C>T , CM000681.2:g.41970405C>T	GRCh38
NC_000019.9:g.42474557C>T , CM000681.1:g.42474557C>T	GRCh37
NC_000019.8:g.47166397C>T	NCBI36
NG_008015.1:g.28826G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.2401G>A MANE Select	NP_689509.1:p.Asp801Asn
ENST00000648268.1:c.2401G>A MANE Select	ENSP00000498113.1:p.Asp801Asn
NM_001256213.1:c.2434G>A	NP_001243142.1:p.Asp812Asn
NM_001256213.2:c.2434G>A	NP_001243142.1:p.Asp812Asn
NM_001256214.1:c.2440G>A	NP_001243143.1:p.Asp814Asn
NM_001256214.2:c.2440G>A	NP_001243143.1:p.Asp814Asn
NM_152296.4:c.2401G>A	NP_689509.1:p.Asp801Asn
ENST00000302102.9:c.2401G>A	ENSP00000302397.5:p.Asp801Asn
ENST00000441343.5:c.2401G>A	ENSP00000411503.1:p.Asp801Asn
ENST00000543770.5:c.2434G>A	ENSP00000437577.1:p.Asp812Asn
ENST00000545399.5:c.2440G>A	ENSP00000444688.1:p.Asp814Asn
ENST00000545399.6:c.2440G>A	ENSP00000444688.1:p.Asp814Asn
ENST00000602133.5:c.2311G>A	ENSP00000471581.1:p.Asp771Asn
ENST00000644613.1:c.2401G>A	ENSP00000494711.1:p.Asp801Asn
XM_011526991.1:c.2311G>A	XP_011525293.1:p.Asp771Asn