Canonical Allele Identifier: CA406052197

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1394902
• ClinVar RCV Id: RCV001898649
• dbSNP Id: rs1176093601
• MyVariant Identifiers: chr19:g.42489101T>A (hg19) ; chr19:g.41984949T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984949T>A , CM000681.2:g.41984949T>A	GRCh38
NC_000019.9:g.42489101T>A , CM000681.1:g.42489101T>A	GRCh37
NC_000019.8:g.47180941T>A	NCBI36
NG_008015.1:g.14282A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1001A>T	ENSP00000444688.1:p.Asn334Ile
ENST00000644613.1:c.962A>T	ENSP00000494711.1:p.Asn321Ile
ENST00000648268.1:c.962A>T MANE Select	ENSP00000498113.1:p.Asn321Ile
ENST00000302102.9:c.962A>T	ENSP00000302397.5:p.Asn321Ile
ENST00000441343.5:c.962A>T	ENSP00000411503.1:p.Asn321Ile
ENST00000485672.2:n.275A>T
ENST00000543770.5:c.995A>T	ENSP00000437577.1:p.Asn332Ile
ENST00000545399.5:c.1001A>T	ENSP00000444688.1:p.Asn334Ile
ENST00000602133.5:c.872A>T	ENSP00000471581.1:p.Asn291Ile
NM_001256213.1:c.995A>T	NP_001243142.1:p.Asn332Ile
NM_001256214.1:c.1001A>T	NP_001243143.1:p.Asn334Ile
NM_152296.4:c.962A>T	NP_689509.1:p.Asn321Ile
XM_011526991.1:c.872A>T	XP_011525293.1:p.Asn291Ile
NM_152296.5:c.962A>T MANE Select	NP_689509.1:p.Asn321Ile
NM_001256214.2:c.1001A>T	NP_001243143.1:p.Asn334Ile
NM_001256213.2:c.995A>T	NP_001243142.1:p.Asn332Ile