Canonical Allele Identifier: CA406053338

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 2699170
• ClinVar RCV Id: RCV003515342
• MyVariant Identifiers: chr19:g.42489473T>C (hg19) ; chr19:g.41985321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985321T>C , CM000681.2:g.41985321T>C	GRCh38
NC_000019.9:g.42489473T>C , CM000681.1:g.42489473T>C	GRCh37
NC_000019.8:g.47181313T>C	NCBI36
NG_008015.1:g.13910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.748A>G	ENSP00000444688.1:p.Thr250Ala
ENST00000644613.1:c.709A>G	ENSP00000494711.1:p.Thr237Ala
ENST00000645448.1:n.941A>G
ENST00000648268.1:c.709A>G MANE Select	ENSP00000498113.1:p.Thr237Ala
ENST00000302102.9:c.709A>G	ENSP00000302397.5:p.Thr237Ala
ENST00000441343.5:c.709A>G	ENSP00000411503.1:p.Thr237Ala
ENST00000473086.3:c.619A>G	ENSP00000469129.2:p.Thr207Ala
ENST00000485672.2:n.22A>G
ENST00000543770.5:c.742A>G	ENSP00000437577.1:p.Thr248Ala
ENST00000545399.5:c.748A>G	ENSP00000444688.1:p.Thr250Ala
ENST00000602133.5:c.619A>G	ENSP00000471581.1:p.Thr207Ala
NM_001256213.1:c.742A>G	NP_001243142.1:p.Thr248Ala
NM_001256214.1:c.748A>G	NP_001243143.1:p.Thr250Ala
NM_152296.4:c.709A>G	NP_689509.1:p.Thr237Ala
XM_011526991.1:c.619A>G	XP_011525293.1:p.Thr207Ala
NM_152296.5:c.709A>G MANE Select	NP_689509.1:p.Thr237Ala
NM_001256214.2:c.748A>G	NP_001243143.1:p.Thr250Ala
NM_001256213.2:c.742A>G	NP_001243142.1:p.Thr248Ala