Canonical Allele Identifier: CA341233

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12909
• ClinVar RCV Id: RCV000013772 ; RCV000726724 ; RCV001004717
• dbSNP Id: rs80356534
• COSMIC: COSM3389055
• MyVariant Identifiers: chr19:g.42482193G>A (hg19) ; chr19:g.41978041G>A (hg38)
• PubMed: PMID:11061257 ; PMID:12112218 ; PMID:15260953 ; PMID:15390049 ; PMID:16632466 ; PMID:17282997 ; PMID:17516473 ; PMID:17595045 ; PMID:20301294 ; PMID:22534615

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978041G>A , CM000681.2:g.41978041G>A	GRCh38
NC_000019.9:g.42482193G>A , CM000681.1:g.42482193G>A	GRCh37
NC_000019.8:g.47174033G>A	NCBI36
NG_008015.1:g.21190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1877C>T	ENSP00000444688.1:p.Thr626Met
ENST00000644613.1:c.1838C>T	ENSP00000494711.1:p.Thr613Met
ENST00000648268.1:c.1838C>T MANE Select	ENSP00000498113.1:p.Thr613Met
ENST00000302102.9:c.1838C>T	ENSP00000302397.5:p.Thr613Met
ENST00000441343.5:c.1838C>T	ENSP00000411503.1:p.Thr613Met
ENST00000543770.5:c.1871C>T	ENSP00000437577.1:p.Thr624Met
ENST00000545399.5:c.1877C>T	ENSP00000444688.1:p.Thr626Met
ENST00000602133.5:c.1748C>T	ENSP00000471581.1:p.Thr583Met
NM_001256213.1:c.1871C>T	NP_001243142.1:p.Thr624Met
NM_001256214.1:c.1877C>T	NP_001243143.1:p.Thr626Met
NM_152296.4:c.1838C>T	NP_689509.1:p.Thr613Met
XM_011526991.1:c.1748C>T	XP_011525293.1:p.Thr583Met
NM_152296.5:c.1838C>T MANE Select	NP_689509.1:p.Thr613Met
NM_001256214.2:c.1877C>T	NP_001243143.1:p.Thr626Met
NM_001256213.2:c.1871C>T	NP_001243142.1:p.Thr624Met