Canonical Allele Identifier: CA507695414

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 536479
• ClinVar RCV Id: RCV000644940
• dbSNP Id: rs1555864811
• MyVariant Identifiers: chr19:g.42489145G>C (hg19) ; chr19:g.41984993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984993G>C , CM000681.2:g.41984993G>C	GRCh38
NC_000019.9:g.42489145G>C , CM000681.1:g.42489145G>C	GRCh37
NC_000019.8:g.47180985G>C	NCBI36
NG_008015.1:g.14238C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.957C>G	ENSP00000444688.1:p.Thr319=
ENST00000644613.1:c.918C>G	ENSP00000494711.1:p.Thr306=
ENST00000648268.1:c.918C>G MANE Select	ENSP00000498113.1:p.Thr306=
ENST00000302102.9:c.918C>G	ENSP00000302397.5:p.Thr306=
ENST00000441343.5:c.918C>G	ENSP00000411503.1:p.Thr306=
ENST00000485672.2:n.231C>G
ENST00000543770.5:c.951C>G	ENSP00000437577.1:p.Thr317=
ENST00000545399.5:c.957C>G	ENSP00000444688.1:p.Thr319=
ENST00000602133.5:c.828C>G	ENSP00000471581.1:p.Thr276=
NM_001256213.1:c.951C>G	NP_001243142.1:p.Thr317=
NM_001256214.1:c.957C>G	NP_001243143.1:p.Thr319=
NM_152296.4:c.918C>G	NP_689509.1:p.Thr306=
XM_011526991.1:c.828C>G	XP_011525293.1:p.Thr276=
NM_152296.5:c.918C>G MANE Select	NP_689509.1:p.Thr306=
NM_001256214.2:c.957C>G	NP_001243143.1:p.Thr319=
NM_001256213.2:c.951C>G	NP_001243142.1:p.Thr317=