Canonical Allele Identifier: CA9467926

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 468595
• ClinVar RCV Id: RCV000560382 ; RCV003317269 ; RCV001662571 ; RCV003156051 ; RCV003302853 ; RCV004553231
• dbSNP Id: rs201573515
• ExAC: 19:42492254 C / T
• gnomAD v2: 19-42492254-C-T
• gnomAD v3: 19-41988102-C-T
• gnomAD v4: 19-41988102-C-T
• MyVariant Identifiers: chr19:g.42492254C>T (hg19) ; chr19:g.41988102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988102C>T , CM000681.2:g.41988102C>T	GRCh38
NC_000019.9:g.42492254C>T , CM000681.1:g.42492254C>T	GRCh37
NC_000019.8:g.47184094C>T	NCBI36
NG_008015.1:g.11129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.230G>A	ENSP00000444688.1:p.Arg77Gln
ENST00000644613.1:c.191G>A	ENSP00000494711.1:p.Arg64Gln
ENST00000648268.1:c.191G>A MANE Select	ENSP00000498113.1:p.Arg64Gln
ENST00000302102.9:c.191G>A	ENSP00000302397.5:p.Arg64Gln
ENST00000441343.5:c.191G>A	ENSP00000411503.1:p.Arg64Gln
ENST00000468774.3:n.500G>A
ENST00000473086.3:c.101G>A	ENSP00000469129.2:p.Arg34Gln
ENST00000543770.5:c.224G>A	ENSP00000437577.1:p.Arg75Gln
ENST00000545399.5:c.230G>A	ENSP00000444688.1:p.Arg77Gln
ENST00000602133.5:c.101G>A	ENSP00000471581.1:p.Arg34Gln
NM_001256213.1:c.224G>A	NP_001243142.1:p.Arg75Gln
NM_001256214.1:c.230G>A	NP_001243143.1:p.Arg77Gln
NM_152296.4:c.191G>A	NP_689509.1:p.Arg64Gln
XM_011526991.1:c.101G>A	XP_011525293.1:p.Arg34Gln
NM_152296.5:c.191G>A MANE Select	NP_689509.1:p.Arg64Gln
NM_001256214.2:c.230G>A	NP_001243143.1:p.Arg77Gln
NM_001256213.2:c.224G>A	NP_001243142.1:p.Arg75Gln