Canonical Allele Identifier: CA163277

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12915
• ClinVar RCV Id: RCV000013778 ; RCV000128465 ; RCV000763432 ; RCV003389231 ; RCV003233069
• dbSNP Id: rs267606670
• gnomAD v4: 19-41968837-C-T
• COSMIC: COSM997166
• MyVariant Identifiers: chr19:g.42472989C>T (hg19) ; chr19:g.41968837C>T (hg38)
• PubMed: PMID:18675996 ; PMID:19652145 ; PMID:20301294 ; PMID:24842602

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41968837C>T , CM000681.2:g.41968837C>T	GRCh38
NC_000019.9:g.42472989C>T , CM000681.1:g.42472989C>T	GRCh37
NC_000019.8:g.47164829C>T	NCBI36
NG_008015.1:g.30394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2806G>A	ENSP00000444688.1:p.Asp936Asn
ENST00000644613.1:c.2767G>A	ENSP00000494711.1:p.Asp923Asn
ENST00000648268.1:c.2767G>A MANE Select	ENSP00000498113.1:p.Asp923Asn
ENST00000302102.9:c.2767G>A	ENSP00000302397.5:p.Asp923Asn
ENST00000441343.5:c.2767G>A	ENSP00000411503.1:p.Asp923Asn
ENST00000543770.5:c.2800G>A	ENSP00000437577.1:p.Asp934Asn
ENST00000545399.5:c.2806G>A	ENSP00000444688.1:p.Asp936Asn
ENST00000602133.5:c.2677G>A	ENSP00000471581.1:p.Asp893Asn
NM_001256213.1:c.2800G>A	NP_001243142.1:p.Asp934Asn
NM_001256214.1:c.2806G>A	NP_001243143.1:p.Asp936Asn
NM_152296.4:c.2767G>A	NP_689509.1:p.Asp923Asn
XM_011526991.1:c.2677G>A	XP_011525293.1:p.Asp893Asn
NM_152296.5:c.2767G>A MANE Select	NP_689509.1:p.Asp923Asn
NM_001256214.2:c.2806G>A	NP_001243143.1:p.Asp936Asn
NM_001256213.2:c.2800G>A	NP_001243142.1:p.Asp934Asn