Canonical Allele Identifier: CA10602480

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 267411
• ClinVar RCV Id: RCV000225081 ; RCV002274003 ; RCV002282097 ; RCV003114440
• dbSNP Id: rs1555865401
• MyVariant Identifiers: chr19:g.42490354C>T (hg19) ; chr19:g.41986202C>T (hg38)
• PubMed: PMID:27626066

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41986202C>T , CM000681.2:g.41986202C>T	GRCh38
NC_000019.9:g.42490354C>T , CM000681.1:g.42490354C>T	GRCh37
NC_000019.8:g.47182194C>T	NCBI36
NG_008015.1:g.13029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.424G>A	ENSP00000444688.1:p.Val142Met
ENST00000644613.1:c.385G>A	ENSP00000494711.1:p.Val129Met
ENST00000645448.1:n.500G>A
ENST00000648268.1:c.385G>A MANE Select	ENSP00000498113.1:p.Val129Met
ENST00000302102.9:c.385G>A	ENSP00000302397.5:p.Val129Met
ENST00000441343.5:c.385G>A	ENSP00000411503.1:p.Val129Met
ENST00000473086.3:c.295G>A	ENSP00000469129.2:p.Val99Met
ENST00000543770.5:c.418G>A	ENSP00000437577.1:p.Val140Met
ENST00000545399.5:c.424G>A	ENSP00000444688.1:p.Val142Met
ENST00000602133.5:c.295G>A	ENSP00000471581.1:p.Val99Met
NM_001256213.1:c.418G>A	NP_001243142.1:p.Val140Met
NM_001256214.1:c.424G>A	NP_001243143.1:p.Val142Met
NM_152296.4:c.385G>A	NP_689509.1:p.Val129Met
XM_011526991.1:c.295G>A	XP_011525293.1:p.Val99Met
NM_152296.5:c.385G>A MANE Select	NP_689509.1:p.Val129Met
NM_001256214.2:c.424G>A	NP_001243143.1:p.Val142Met
NM_001256213.2:c.418G>A	NP_001243142.1:p.Val140Met