Canonical Allele Identifier: CA406051128

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1712144
• ClinVar RCV Id: RCV002293862
• MyVariant Identifiers: chr19:g.42486149G>C (hg19) ; chr19:g.41981997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41981997G>C , CM000681.2:g.41981997G>C	GRCh38
NC_000019.9:g.42486149G>C , CM000681.1:g.42486149G>C	GRCh37
NC_000019.8:g.47177989G>C	NCBI36
NG_008015.1:g.17234C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1142C>G	ENSP00000444688.1:p.Thr381Arg
ENST00000644613.1:c.1103C>G	ENSP00000494711.1:p.Thr368Arg
ENST00000648268.1:c.1103C>G MANE Select	ENSP00000498113.1:p.Thr368Arg
ENST00000302102.9:c.1103C>G	ENSP00000302397.5:p.Thr368Arg
ENST00000441343.5:c.1103C>G	ENSP00000411503.1:p.Thr368Arg
ENST00000543770.5:c.1136C>G	ENSP00000437577.1:p.Thr379Arg
ENST00000545399.5:c.1142C>G	ENSP00000444688.1:p.Thr381Arg
ENST00000602133.5:c.1013C>G	ENSP00000471581.1:p.Thr338Arg
NM_001256213.1:c.1136C>G	NP_001243142.1:p.Thr379Arg
NM_001256214.1:c.1142C>G	NP_001243143.1:p.Thr381Arg
NM_152296.4:c.1103C>G	NP_689509.1:p.Thr368Arg
XM_011526991.1:c.1013C>G	XP_011525293.1:p.Thr338Arg
NM_152296.5:c.1103C>G MANE Select	NP_689509.1:p.Thr368Arg
NM_001256214.2:c.1142C>G	NP_001243143.1:p.Thr381Arg
NM_001256213.2:c.1136C>G	NP_001243142.1:p.Thr379Arg