Canonical Allele Identifier: CA342905

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 37110
• ClinVar RCV Id: RCV000030752 ; RCV000476589 ; RCV000415180 ; RCV000418823 ; RCV000763431 ; RCV004549395
• dbSNP Id: rs398122887
• COSMIC: COSM3534545
• MyVariant Identifiers: chr19:g.42471896C>T (hg19) ; chr19:g.41967744C>T (hg38)
• PubMed: PMID:20301294 ; PMID:22842232 ; PMID:24842602

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41967744C>T , CM000681.2:g.41967744C>T	GRCh38
NC_000019.9:g.42471896C>T , CM000681.1:g.42471896C>T	GRCh37
NC_000019.8:g.47163736C>T	NCBI36
NG_008015.1:g.31487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2878G>A	ENSP00000444688.1:p.Gly960Arg
ENST00000644613.1:c.2839G>A	ENSP00000494711.1:p.Gly947Arg
ENST00000648268.1:c.2839G>A MANE Select	ENSP00000498113.1:p.Gly947Arg
ENST00000302102.9:c.2839G>A	ENSP00000302397.5:p.Gly947Arg
ENST00000441343.5:c.2839G>A	ENSP00000411503.1:p.Gly947Arg
ENST00000543770.5:c.2872G>A	ENSP00000437577.1:p.Gly958Arg
ENST00000545399.5:c.2878G>A	ENSP00000444688.1:p.Gly960Arg
ENST00000602133.5:c.2749G>A	ENSP00000471581.1:p.Gly917Arg
NM_001256213.1:c.2872G>A	NP_001243142.1:p.Gly958Arg
NM_001256214.1:c.2878G>A	NP_001243143.1:p.Gly960Arg
NM_152296.4:c.2839G>A	NP_689509.1:p.Gly947Arg
XM_011526991.1:c.2749G>A	XP_011525293.1:p.Gly917Arg
NM_152296.5:c.2839G>A MANE Select	NP_689509.1:p.Gly947Arg
NM_001256214.2:c.2878G>A	NP_001243143.1:p.Gly960Arg
NM_001256213.2:c.2872G>A	NP_001243142.1:p.Gly958Arg