Canonical Allele Identifier: CA406046060

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1038703
• ClinVar RCV Id: RCV001342044
• dbSNP Id: rs2075193714
• gnomAD v4: 19-41978300-C-T
• MyVariant Identifiers: chr19:g.42482452C>T (hg19) ; chr19:g.41978300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978300C>T , CM000681.2:g.41978300C>T	GRCh38
NC_000019.9:g.42482452C>T , CM000681.1:g.42482452C>T	GRCh37
NC_000019.8:g.47174292C>T	NCBI36
NG_008015.1:g.20931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1696G>A	ENSP00000444688.1:p.Glu566Lys
ENST00000644613.1:c.1657G>A	ENSP00000494711.1:p.Glu553Lys
ENST00000648268.1:c.1657G>A MANE Select	ENSP00000498113.1:p.Glu553Lys
ENST00000302102.9:c.1657G>A	ENSP00000302397.5:p.Glu553Lys
ENST00000441343.5:c.1657G>A	ENSP00000411503.1:p.Glu553Lys
ENST00000543770.5:c.1690G>A	ENSP00000437577.1:p.Glu564Lys
ENST00000545399.5:c.1696G>A	ENSP00000444688.1:p.Glu566Lys
ENST00000602133.5:c.1567G>A	ENSP00000471581.1:p.Glu523Lys
NM_001256213.1:c.1690G>A	NP_001243142.1:p.Glu564Lys
NM_001256214.1:c.1696G>A	NP_001243143.1:p.Glu566Lys
NM_152296.4:c.1657G>A	NP_689509.1:p.Glu553Lys
XM_011526991.1:c.1567G>A	XP_011525293.1:p.Glu523Lys
NM_152296.5:c.1657G>A MANE Select	NP_689509.1:p.Glu553Lys
NM_001256214.2:c.1696G>A	NP_001243143.1:p.Glu566Lys
NM_001256213.2:c.1690G>A	NP_001243142.1:p.Glu564Lys