Canonical Allele Identifier: CA406045163

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2867175
• ClinVar RCV Id: RCV003626331
• MyVariant Identifiers: chr19:g.42482188T>C (hg19) ; chr19:g.41978036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978036T>C , CM000681.2:g.41978036T>C	GRCh38
NC_000019.9:g.42482188T>C , CM000681.1:g.42482188T>C	GRCh37
NC_000019.8:g.47174028T>C	NCBI36
NG_008015.1:g.21195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1882A>G	ENSP00000444688.1:p.Lys628Glu
ENST00000644613.1:c.1843A>G	ENSP00000494711.1:p.Lys615Glu
ENST00000648268.1:c.1843A>G MANE Select	ENSP00000498113.1:p.Lys615Glu
ENST00000302102.9:c.1843A>G	ENSP00000302397.5:p.Lys615Glu
ENST00000441343.5:c.1843A>G	ENSP00000411503.1:p.Lys615Glu
ENST00000543770.5:c.1876A>G	ENSP00000437577.1:p.Lys626Glu
ENST00000545399.5:c.1882A>G	ENSP00000444688.1:p.Lys628Glu
ENST00000602133.5:c.1753A>G	ENSP00000471581.1:p.Lys585Glu
NM_001256213.1:c.1876A>G	NP_001243142.1:p.Lys626Glu
NM_001256214.1:c.1882A>G	NP_001243143.1:p.Lys628Glu
NM_152296.4:c.1843A>G	NP_689509.1:p.Lys615Glu
XM_011526991.1:c.1753A>G	XP_011525293.1:p.Lys585Glu
NM_152296.5:c.1843A>G MANE Select	NP_689509.1:p.Lys615Glu
NM_001256214.2:c.1882A>G	NP_001243143.1:p.Lys628Glu
NM_001256213.2:c.1876A>G	NP_001243142.1:p.Lys626Glu