Canonical Allele Identifier: CA9467730

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 329422
• ClinVar RCV Id: RCV000270151 ; RCV000364631 ; RCV002259881 ; RCV004549739 ; RCV001706532 ; RCV002259880
• dbSNP Id: rs377256877
• ExAC: 19:42486261 G / C
• gnomAD v2: 19-42486261-G-C
• gnomAD v3: 19-41982109-G-C
• gnomAD v4: 19-41982109-G-C
• MyVariant Identifiers: chr19:g.42486261G>C (hg19) ; chr19:g.41982109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41982109G>C , CM000681.2:g.41982109G>C	GRCh38
NC_000019.9:g.42486261G>C , CM000681.1:g.42486261G>C	GRCh37
NC_000019.8:g.47178101G>C	NCBI36
NG_008015.1:g.17122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1033-3C>G	ENSP00000444688.1:n.1033-3C>G
ENST00000644613.1:c.994-3C>G	ENSP00000494711.1:n.994-3C>G
ENST00000648268.1:c.994-3C>G MANE Select	ENSP00000498113.1:n.994-3C>G
ENST00000302102.9:c.994-3C>G	ENSP00000302397.5:n.994-3C>G
ENST00000441343.5:c.994-3C>G	ENSP00000411503.1:n.994-3C>G
ENST00000543770.5:c.1027-3C>G	ENSP00000437577.1:n.1027-3C>G
ENST00000545399.5:c.1033-3C>G	ENSP00000444688.1:n.1033-3C>G
ENST00000602133.5:c.904-3C>G	ENSP00000471581.1:n.904-3C>G
NM_001256213.1:c.1027-3C>G	NP_001243142.1:n.1027-3C>G
NM_001256214.1:c.1033-3C>G	NP_001243143.1:n.1033-3C>G
NM_152296.4:c.994-3C>G	NP_689509.1:n.994-3C>G
XM_011526991.1:c.904-3C>G	XP_011525293.1:n.904-3C>G
NM_152296.5:c.994-3C>G MANE Select	NP_689509.1:n.994-3C>G
NM_001256214.2:c.1033-3C>G	NP_001243143.1:n.1033-3C>G
NM_001256213.2:c.1027-3C>G	NP_001243142.1:n.1027-3C>G