Canonical Allele Identifier: CA406041894

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 430172
• ClinVar RCV Id: RCV000493277 ; RCV001234039
• dbSNP Id: rs1131691813
• MyVariant Identifiers: chr19:g.42479853C>T (hg19) ; chr19:g.41975701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41975701C>T , CM000681.2:g.41975701C>T	GRCh38
NC_000019.9:g.42479853C>T , CM000681.1:g.42479853C>T	GRCh37
NC_000019.8:g.47171693C>T	NCBI36
NG_008015.1:g.23530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2230G>A	ENSP00000444688.1:p.Val744Ile
ENST00000644613.1:c.2191G>A	ENSP00000494711.1:p.Val731Ile
ENST00000648268.1:c.2191G>A MANE Select	ENSP00000498113.1:p.Val731Ile
ENST00000302102.9:c.2191G>A	ENSP00000302397.5:p.Val731Ile
ENST00000441343.5:c.2191G>A	ENSP00000411503.1:p.Val731Ile
ENST00000543770.5:c.2224G>A	ENSP00000437577.1:p.Val742Ile
ENST00000545399.5:c.2230G>A	ENSP00000444688.1:p.Val744Ile
ENST00000602133.5:c.2101G>A	ENSP00000471581.1:p.Val701Ile
NM_001256213.1:c.2224G>A	NP_001243142.1:p.Val742Ile
NM_001256214.1:c.2230G>A	NP_001243143.1:p.Val744Ile
NM_152296.4:c.2191G>A	NP_689509.1:p.Val731Ile
XM_011526991.1:c.2101G>A	XP_011525293.1:p.Val701Ile
NM_152296.5:c.2191G>A MANE Select	NP_689509.1:p.Val731Ile
NM_001256214.2:c.2230G>A	NP_001243143.1:p.Val744Ile
NM_001256213.2:c.2224G>A	NP_001243142.1:p.Val742Ile