Canonical Allele Identifier: CA346014

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 161134
• ClinVar RCV Id: RCV000148315 ; RCV000578251 ; RCV000624894 ; RCV000489717 ; RCV000791274 ; RCV001731483 ; RCV002272140
• dbSNP Id: rs606231435
• gnomAD v4: 19-41970539-C-T
• MyVariant Identifiers: chr19:g.42474691C>T (hg19) ; chr19:g.41970539C>T (hg38)
• PubMed: PMID:2842249 ; PMID:8496742 ; PMID:11020638 ; PMID:15260953 ; PMID:16632466 ; PMID:19652145 ; PMID:20301294 ; PMID:22534615 ; PMID:22842232 ; PMID:22850527 ; PMID:22924536 ; PMID:22933743 ; PMID:23483595 ; PMID:24123283 ; PMID:24436111 ; PMID:24468074 ; PMID:24739246 ; PMID:24996492 ; PMID:25359261 ; PMID:25656163 ; PMID:25895915 ; PMID:25996915 ; PMID:26297560 ; PMID:26400718 ; PMID:26410222 ; PMID:27091223 ; PMID:28293679 ; PMID:29184165

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970539C>T , CM000681.2:g.41970539C>T	GRCh38
NC_000019.9:g.42474691C>T , CM000681.1:g.42474691C>T	GRCh37
NC_000019.8:g.47166531C>T	NCBI36
NG_008015.1:g.28692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2306G>A	ENSP00000444688.1:p.Arg769His
ENST00000644613.1:c.2267G>A	ENSP00000494711.1:p.Arg756His
ENST00000648268.1:c.2267G>A MANE Select	ENSP00000498113.1:p.Arg756His
ENST00000302102.9:c.2267G>A	ENSP00000302397.5:p.Arg756His
ENST00000441343.5:c.2267G>A	ENSP00000411503.1:p.Arg756His
ENST00000543770.5:c.2300G>A	ENSP00000437577.1:p.Arg767His
ENST00000545399.5:c.2306G>A	ENSP00000444688.1:p.Arg769His
ENST00000602133.5:c.2177G>A	ENSP00000471581.1:p.Arg726His
NM_001256213.1:c.2300G>A	NP_001243142.1:p.Arg767His
NM_001256214.1:c.2306G>A	NP_001243143.1:p.Arg769His
NM_152296.4:c.2267G>A	NP_689509.1:p.Arg756His
XM_011526991.1:c.2177G>A	XP_011525293.1:p.Arg726His
NM_152296.5:c.2267G>A MANE Select	NP_689509.1:p.Arg756His
NM_001256214.2:c.2306G>A	NP_001243143.1:p.Arg769His
NM_001256213.2:c.2300G>A	NP_001243142.1:p.Arg767His