Canonical Allele Identifier: CA406054025

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489499T>A (hg19) ; chr19:g.41985347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985347T>A , CM000681.2:g.41985347T>A	GRCh38
NC_000019.9:g.42489499T>A , CM000681.1:g.42489499T>A	GRCh37
NC_000019.8:g.47181339T>A	NCBI36
NG_008015.1:g.13884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.722A>T	ENSP00000444688.1:p.Glu241Val
ENST00000644613.1:c.683A>T	ENSP00000494711.1:p.Glu228Val
ENST00000645448.1:n.915A>T
ENST00000648268.1:c.683A>T MANE Select	ENSP00000498113.1:p.Glu228Val
ENST00000302102.9:c.683A>T	ENSP00000302397.5:p.Glu228Val
ENST00000441343.5:c.683A>T	ENSP00000411503.1:p.Glu228Val
ENST00000473086.3:c.593A>T	ENSP00000469129.2:p.Glu198Val
ENST00000543770.5:c.716A>T	ENSP00000437577.1:p.Glu239Val
ENST00000545399.5:c.722A>T	ENSP00000444688.1:p.Glu241Val
ENST00000602133.5:c.593A>T	ENSP00000471581.1:p.Glu198Val
NM_001256213.1:c.716A>T	NP_001243142.1:p.Glu239Val
NM_001256214.1:c.722A>T	NP_001243143.1:p.Glu241Val
NM_152296.4:c.683A>T	NP_689509.1:p.Glu228Val
XM_011526991.1:c.593A>T	XP_011525293.1:p.Glu198Val
NM_152296.5:c.683A>T MANE Select	NP_689509.1:p.Glu228Val
NM_001256214.2:c.722A>T	NP_001243143.1:p.Glu241Val
NM_001256213.2:c.716A>T	NP_001243142.1:p.Glu239Val