Canonical Allele Identifier: CA406054067

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489514T>A (hg19) ; chr19:g.41985362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985362T>A , CM000681.2:g.41985362T>A	GRCh38
NC_000019.9:g.42489514T>A , CM000681.1:g.42489514T>A	GRCh37
NC_000019.8:g.47181354T>A	NCBI36
NG_008015.1:g.13869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.707A>T	ENSP00000444688.1:p.His236Leu
ENST00000644613.1:c.668A>T	ENSP00000494711.1:p.His223Leu
ENST00000645448.1:n.900A>T
ENST00000648268.1:c.668A>T MANE Select	ENSP00000498113.1:p.His223Leu
ENST00000302102.9:c.668A>T	ENSP00000302397.5:p.His223Leu
ENST00000441343.5:c.668A>T	ENSP00000411503.1:p.His223Leu
ENST00000473086.3:c.578A>T	ENSP00000469129.2:p.His193Leu
ENST00000543770.5:c.701A>T	ENSP00000437577.1:p.His234Leu
ENST00000545399.5:c.707A>T	ENSP00000444688.1:p.His236Leu
ENST00000602133.5:c.578A>T	ENSP00000471581.1:p.His193Leu
NM_001256213.1:c.701A>T	NP_001243142.1:p.His234Leu
NM_001256214.1:c.707A>T	NP_001243143.1:p.His236Leu
NM_152296.4:c.668A>T	NP_689509.1:p.His223Leu
XM_011526991.1:c.578A>T	XP_011525293.1:p.His193Leu
NM_152296.5:c.668A>T MANE Select	NP_689509.1:p.His223Leu
NM_001256214.2:c.707A>T	NP_001243143.1:p.His236Leu
NM_001256213.2:c.701A>T	NP_001243142.1:p.His234Leu