Canonical Allele Identifier: CA9467372

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 434442
• ClinVar RCV Id: RCV000500150 ; RCV000697449 ; RCV003326445
• dbSNP Id: rs368371895
• ExAC: 19:42474390 C / T
• gnomAD v2: 19-42474390-C-T
• gnomAD v3: 19-41970238-C-T
• gnomAD v4: 19-41970238-C-T
• COSMIC: COSM3286569
• MyVariant Identifiers: chr19:g.42474390C>T (hg19) ; chr19:g.41970238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970238C>T , CM000681.2:g.41970238C>T	GRCh38
NC_000019.9:g.42474390C>T , CM000681.1:g.42474390C>T	GRCh37
NC_000019.8:g.47166230C>T	NCBI36
NG_008015.1:g.28993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2528G>A	ENSP00000444688.1:p.Arg843Gln
ENST00000644613.1:c.2489G>A	ENSP00000494711.1:p.Arg830Gln
ENST00000648268.1:c.2489G>A MANE Select	ENSP00000498113.1:p.Arg830Gln
ENST00000302102.9:c.2489G>A	ENSP00000302397.5:p.Arg830Gln
ENST00000441343.5:c.2489G>A	ENSP00000411503.1:p.Arg830Gln
ENST00000543770.5:c.2522G>A	ENSP00000437577.1:p.Arg841Gln
ENST00000545399.5:c.2528G>A	ENSP00000444688.1:p.Arg843Gln
ENST00000602133.5:c.2399G>A	ENSP00000471581.1:p.Arg800Gln
NM_001256213.1:c.2522G>A	NP_001243142.1:p.Arg841Gln
NM_001256214.1:c.2528G>A	NP_001243143.1:p.Arg843Gln
NM_152296.4:c.2489G>A	NP_689509.1:p.Arg830Gln
XM_011526991.1:c.2399G>A	XP_011525293.1:p.Arg800Gln
NM_152296.5:c.2489G>A MANE Select	NP_689509.1:p.Arg830Gln
NM_001256214.2:c.2528G>A	NP_001243143.1:p.Arg843Gln
NM_001256213.2:c.2522G>A	NP_001243142.1:p.Arg841Gln