Canonical Allele Identifier: CA406054375

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985908G>A , CM000681.2:g.41985908G>A	GRCh38
NC_000019.9:g.42490060G>A , CM000681.1:g.42490060G>A	GRCh37
NC_000019.8:g.47181900G>A	NCBI36
NG_008015.1:g.13323C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.562C>T MANE Select	NP_689509.1:p.Arg188Ter
ENST00000648268.1:c.562C>T MANE Select	ENSP00000498113.1:p.Arg188Ter
NM_001256213.1:c.595C>T	NP_001243142.1:p.Arg199Ter
NM_001256213.2:c.595C>T	NP_001243142.1:p.Arg199Ter
NM_001256214.1:c.601C>T	NP_001243143.1:p.Arg201Ter
NM_001256214.2:c.601C>T	NP_001243143.1:p.Arg201Ter
NM_152296.4:c.562C>T	NP_689509.1:p.Arg188Ter
ENST00000302102.9:c.562C>T	ENSP00000302397.5:p.Arg188Ter
ENST00000441343.5:c.562C>T	ENSP00000411503.1:p.Arg188Ter
ENST00000473086.3:c.472C>T	ENSP00000469129.2:p.Arg158Ter
ENST00000543770.5:c.595C>T	ENSP00000437577.1:p.Arg199Ter
ENST00000545399.5:c.601C>T	ENSP00000444688.1:p.Arg201Ter
ENST00000545399.6:c.601C>T	ENSP00000444688.1:p.Arg201Ter
ENST00000602133.5:c.472C>T	ENSP00000471581.1:p.Arg158Ter
ENST00000644613.1:c.562C>T	ENSP00000494711.1:p.Arg188Ter
ENST00000645448.1:n.794C>T
XM_011526991.1:c.472C>T	XP_011525293.1:p.Arg158Ter