Canonical Allele Identifier: CA406052896

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489231T>C (hg19) ; chr19:g.41985079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985079T>C , CM000681.2:g.41985079T>C	GRCh38
NC_000019.9:g.42489231T>C , CM000681.1:g.42489231T>C	GRCh37
NC_000019.8:g.47181071T>C	NCBI36
NG_008015.1:g.14152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.871A>G	ENSP00000444688.1:p.Ile291Val
ENST00000644613.1:c.832A>G	ENSP00000494711.1:p.Ile278Val
ENST00000648268.1:c.832A>G MANE Select	ENSP00000498113.1:p.Ile278Val
ENST00000302102.9:c.832A>G	ENSP00000302397.5:p.Ile278Val
ENST00000441343.5:c.832A>G	ENSP00000411503.1:p.Ile278Val
ENST00000473086.3:c.742A>G	ENSP00000469129.2:p.Ile248Val
ENST00000485672.2:n.145A>G
ENST00000543770.5:c.865A>G	ENSP00000437577.1:p.Ile289Val
ENST00000545399.5:c.871A>G	ENSP00000444688.1:p.Ile291Val
ENST00000602133.5:c.742A>G	ENSP00000471581.1:p.Ile248Val
NM_001256213.1:c.865A>G	NP_001243142.1:p.Ile289Val
NM_001256214.1:c.871A>G	NP_001243143.1:p.Ile291Val
NM_152296.4:c.832A>G	NP_689509.1:p.Ile278Val
XM_011526991.1:c.742A>G	XP_011525293.1:p.Ile248Val
NM_152296.5:c.832A>G MANE Select	NP_689509.1:p.Ile278Val
NM_001256214.2:c.871A>G	NP_001243143.1:p.Ile291Val
NM_001256213.2:c.865A>G	NP_001243142.1:p.Ile289Val