Canonical Allele Identifier: CA406052661

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489188A>T (hg19) ; chr19:g.41985036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985036A>T , CM000681.2:g.41985036A>T	GRCh38
NC_000019.9:g.42489188A>T , CM000681.1:g.42489188A>T	GRCh37
NC_000019.8:g.47181028A>T	NCBI36
NG_008015.1:g.14195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.914T>A	ENSP00000444688.1:p.Leu305Gln
ENST00000644613.1:c.875T>A	ENSP00000494711.1:p.Leu292Gln
ENST00000648268.1:c.875T>A MANE Select	ENSP00000498113.1:p.Leu292Gln
ENST00000302102.9:c.875T>A	ENSP00000302397.5:p.Leu292Gln
ENST00000441343.5:c.875T>A	ENSP00000411503.1:p.Leu292Gln
ENST00000485672.2:n.188T>A
ENST00000543770.5:c.908T>A	ENSP00000437577.1:p.Leu303Gln
ENST00000545399.5:c.914T>A	ENSP00000444688.1:p.Leu305Gln
ENST00000602133.5:c.785T>A	ENSP00000471581.1:p.Leu262Gln
NM_001256213.1:c.908T>A	NP_001243142.1:p.Leu303Gln
NM_001256214.1:c.914T>A	NP_001243143.1:p.Leu305Gln
NM_152296.4:c.875T>A	NP_689509.1:p.Leu292Gln
XM_011526991.1:c.785T>A	XP_011525293.1:p.Leu262Gln
NM_152296.5:c.875T>A MANE Select	NP_689509.1:p.Leu292Gln
NM_001256214.2:c.914T>A	NP_001243143.1:p.Leu305Gln
NM_001256213.2:c.908T>A	NP_001243142.1:p.Leu303Gln