Canonical Allele Identifier: CA406054088

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1198942
• ClinVar RCV Id: RCV001563270
• dbSNP Id: rs2145978691
• MyVariant Identifiers: chr19:g.42489523T>G (hg19) ; chr19:g.41985371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985371T>G , CM000681.2:g.41985371T>G	GRCh38
NC_000019.9:g.42489523T>G , CM000681.1:g.42489523T>G	GRCh37
NC_000019.8:g.47181363T>G	NCBI36
NG_008015.1:g.13860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.698A>C	ENSP00000444688.1:p.Asp233Ala
ENST00000644613.1:c.659A>C	ENSP00000494711.1:p.Asp220Ala
ENST00000645448.1:n.891A>C
ENST00000648268.1:c.659A>C MANE Select	ENSP00000498113.1:p.Asp220Ala
ENST00000302102.9:c.659A>C	ENSP00000302397.5:p.Asp220Ala
ENST00000441343.5:c.659A>C	ENSP00000411503.1:p.Asp220Ala
ENST00000473086.3:c.569A>C	ENSP00000469129.2:p.Asp190Ala
ENST00000543770.5:c.692A>C	ENSP00000437577.1:p.Asp231Ala
ENST00000545399.5:c.698A>C	ENSP00000444688.1:p.Asp233Ala
ENST00000602133.5:c.569A>C	ENSP00000471581.1:p.Asp190Ala
NM_001256213.1:c.692A>C	NP_001243142.1:p.Asp231Ala
NM_001256214.1:c.698A>C	NP_001243143.1:p.Asp233Ala
NM_152296.4:c.659A>C	NP_689509.1:p.Asp220Ala
XM_011526991.1:c.569A>C	XP_011525293.1:p.Asp190Ala
NM_152296.5:c.659A>C MANE Select	NP_689509.1:p.Asp220Ala
NM_001256214.2:c.698A>C	NP_001243143.1:p.Asp233Ala
NM_001256213.2:c.692A>C	NP_001243142.1:p.Asp231Ala