Canonical Allele Identifier: CA406044826

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2765138
• ClinVar RCV Id: RCV003515889
• MyVariant Identifiers: chr19:g.42482099C>G (hg19) ; chr19:g.41977947C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41977947C>G , CM000681.2:g.41977947C>G	GRCh38
NC_000019.9:g.42482099C>G , CM000681.1:g.42482099C>G	GRCh37
NC_000019.8:g.47173939C>G	NCBI36
NG_008015.1:g.21284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1971G>C	ENSP00000444688.1:p.Gln657His
ENST00000644613.1:c.1932G>C	ENSP00000494711.1:p.Gln644His
ENST00000648268.1:c.1932G>C MANE Select	ENSP00000498113.1:p.Gln644His
ENST00000302102.9:c.1932G>C	ENSP00000302397.5:p.Gln644His
ENST00000441343.5:c.1932G>C	ENSP00000411503.1:p.Gln644His
ENST00000543770.5:c.1965G>C	ENSP00000437577.1:p.Gln655His
ENST00000545399.5:c.1971G>C	ENSP00000444688.1:p.Gln657His
ENST00000602133.5:c.1842G>C	ENSP00000471581.1:p.Gln614His
NM_001256213.1:c.1965G>C	NP_001243142.1:p.Gln655His
NM_001256214.1:c.1971G>C	NP_001243143.1:p.Gln657His
NM_152296.4:c.1932G>C	NP_689509.1:p.Gln644His
XM_011526991.1:c.1842G>C	XP_011525293.1:p.Gln614His
NM_152296.5:c.1932G>C MANE Select	NP_689509.1:p.Gln644His
NM_001256214.2:c.1971G>C	NP_001243143.1:p.Gln657His
NM_001256213.2:c.1965G>C	NP_001243142.1:p.Gln655His