Canonical Allele Identifier: CA9467811

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2419578
• ClinVar RCV Id: RCV003115463
• dbSNP Id: rs782251693
• ExAC: 19:42489494 G / A
• gnomAD v2: 19-42489494-G-A
• gnomAD v4: 19-41985342-G-A
• MyVariant Identifiers: chr19:g.42489494G>A (hg19) ; chr19:g.41985342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985342G>A , CM000681.2:g.41985342G>A	GRCh38
NC_000019.9:g.42489494G>A , CM000681.1:g.42489494G>A	GRCh37
NC_000019.8:g.47181334G>A	NCBI36
NG_008015.1:g.13889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.727C>T	ENSP00000444688.1:p.Arg243Trp
ENST00000644613.1:c.688C>T	ENSP00000494711.1:p.Arg230Trp
ENST00000645448.1:n.920C>T
ENST00000648268.1:c.688C>T MANE Select	ENSP00000498113.1:p.Arg230Trp
ENST00000302102.9:c.688C>T	ENSP00000302397.5:p.Arg230Trp
ENST00000441343.5:c.688C>T	ENSP00000411503.1:p.Arg230Trp
ENST00000473086.3:c.598C>T	ENSP00000469129.2:p.Arg200Trp
ENST00000485672.2:n.1C>T
ENST00000543770.5:c.721C>T	ENSP00000437577.1:p.Arg241Trp
ENST00000545399.5:c.727C>T	ENSP00000444688.1:p.Arg243Trp
ENST00000602133.5:c.598C>T	ENSP00000471581.1:p.Arg200Trp
NM_001256213.1:c.721C>T	NP_001243142.1:p.Arg241Trp
NM_001256214.1:c.727C>T	NP_001243143.1:p.Arg243Trp
NM_152296.4:c.688C>T	NP_689509.1:p.Arg230Trp
XM_011526991.1:c.598C>T	XP_011525293.1:p.Arg200Trp
NM_152296.5:c.688C>T MANE Select	NP_689509.1:p.Arg230Trp
NM_001256214.2:c.727C>T	NP_001243143.1:p.Arg243Trp
NM_001256213.2:c.721C>T	NP_001243142.1:p.Arg241Trp