Canonical Allele Identifier: CA341238

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12914
• ClinVar RCV Id: RCV000013777
• dbSNP Id: rs80356537
• MyVariant Identifiers: chr19:g.42474557C>A (hg19) ; chr19:g.41970405C>A (hg38)
• PubMed: PMID:9109901 ; PMID:15260953 ; PMID:17282997 ; PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970405C>A , CM000681.2:g.41970405C>A	GRCh38
NC_000019.9:g.42474557C>A , CM000681.1:g.42474557C>A	GRCh37
NC_000019.8:g.47166397C>A	NCBI36
NG_008015.1:g.28826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2440G>T	ENSP00000444688.1:p.Asp814Tyr
ENST00000644613.1:c.2401G>T	ENSP00000494711.1:p.Asp801Tyr
ENST00000648268.1:c.2401G>T MANE Select	ENSP00000498113.1:p.Asp801Tyr
ENST00000302102.9:c.2401G>T	ENSP00000302397.5:p.Asp801Tyr
ENST00000441343.5:c.2401G>T	ENSP00000411503.1:p.Asp801Tyr
ENST00000543770.5:c.2434G>T	ENSP00000437577.1:p.Asp812Tyr
ENST00000545399.5:c.2440G>T	ENSP00000444688.1:p.Asp814Tyr
ENST00000602133.5:c.2311G>T	ENSP00000471581.1:p.Asp771Tyr
NM_001256213.1:c.2434G>T	NP_001243142.1:p.Asp812Tyr
NM_001256214.1:c.2440G>T	NP_001243143.1:p.Asp814Tyr
NM_152296.4:c.2401G>T	NP_689509.1:p.Asp801Tyr
XM_011526991.1:c.2311G>T	XP_011525293.1:p.Asp771Tyr
NM_152296.5:c.2401G>T MANE Select	NP_689509.1:p.Asp801Tyr
NM_001256214.2:c.2440G>T	NP_001243143.1:p.Asp814Tyr
NM_001256213.2:c.2434G>T	NP_001243142.1:p.Asp812Tyr