Canonical Allele Identifier: CA10652493

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 329424
• ClinVar RCV Id: RCV000282141 ; RCV000376704
• dbSNP Id: rs886054475
• gnomAD v4: 19-41985426-G-A
• MyVariant Identifiers: chr19:g.42489578G>A (hg19) ; chr19:g.41985426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985426G>A , CM000681.2:g.41985426G>A	GRCh38
NC_000019.9:g.42489578G>A , CM000681.1:g.42489578G>A	GRCh37
NC_000019.8:g.47181418G>A	NCBI36
NG_008015.1:g.13805C>T

Transcript Alleles

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