Canonical Allele Identifier: CA9467826

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 329425
• ClinVar RCV Id: RCV000337219 ; RCV000371931
• dbSNP Id: rs782819736
• ExAC: 19:42489582 G / T
• gnomAD v2: 19-42489582-G-T
• gnomAD v3: 19-41985430-G-T
• gnomAD v4: 19-41985430-G-T
• MyVariant Identifiers: chr19:g.42489582G>T (hg19) ; chr19:g.41985430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985430G>T , CM000681.2:g.41985430G>T	GRCh38
NC_000019.9:g.42489582G>T , CM000681.1:g.42489582G>T	GRCh37
NC_000019.8:g.47181422G>T	NCBI36
NG_008015.1:g.13801C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.646-7C>A	ENSP00000444688.1:n.646-7C>A
ENST00000644613.1:c.607-7C>A	ENSP00000494711.1:n.607-7C>A
ENST00000645448.1:n.839-7C>A
ENST00000648268.1:c.607-7C>A MANE Select	ENSP00000498113.1:n.607-7C>A
ENST00000302102.9:c.607-7C>A	ENSP00000302397.5:n.607-7C>A
ENST00000441343.5:c.607-7C>A	ENSP00000411503.1:n.607-7C>A
ENST00000473086.3:c.517-7C>A	ENSP00000469129.2:n.517-7C>A
ENST00000543770.5:c.640-7C>A	ENSP00000437577.1:n.640-7C>A
ENST00000545399.5:c.646-7C>A	ENSP00000444688.1:n.646-7C>A
ENST00000602133.5:c.517-7C>A	ENSP00000471581.1:n.517-7C>A
NM_001256213.1:c.640-7C>A	NP_001243142.1:n.640-7C>A
NM_001256214.1:c.646-7C>A	NP_001243143.1:n.646-7C>A
NM_152296.4:c.607-7C>A	NP_689509.1:n.607-7C>A
XM_011526991.1:c.517-7C>A	XP_011525293.1:n.517-7C>A
NM_152296.5:c.607-7C>A MANE Select	NP_689509.1:n.607-7C>A
NM_001256214.2:c.646-7C>A	NP_001243143.1:n.646-7C>A
NM_001256213.2:c.640-7C>A	NP_001243142.1:n.640-7C>A