Canonical Allele Identifier: CA406052281

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1321205
• ClinVar RCV Id: RCV001777182
• dbSNP Id: rs2145977758
• MyVariant Identifiers: chr19:g.42489116C>A (hg19) ; chr19:g.41984964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984964C>A , CM000681.2:g.41984964C>A	GRCh38
NC_000019.9:g.42489116C>A , CM000681.1:g.42489116C>A	GRCh37
NC_000019.8:g.47180956C>A	NCBI36
NG_008015.1:g.14267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.986G>T	ENSP00000444688.1:p.Gly329Val
ENST00000644613.1:c.947G>T	ENSP00000494711.1:p.Gly316Val
ENST00000648268.1:c.947G>T MANE Select	ENSP00000498113.1:p.Gly316Val
ENST00000302102.9:c.947G>T	ENSP00000302397.5:p.Gly316Val
ENST00000441343.5:c.947G>T	ENSP00000411503.1:p.Gly316Val
ENST00000485672.2:n.260G>T
ENST00000543770.5:c.980G>T	ENSP00000437577.1:p.Gly327Val
ENST00000545399.5:c.986G>T	ENSP00000444688.1:p.Gly329Val
ENST00000602133.5:c.857G>T	ENSP00000471581.1:p.Gly286Val
NM_001256213.1:c.980G>T	NP_001243142.1:p.Gly327Val
NM_001256214.1:c.986G>T	NP_001243143.1:p.Gly329Val
NM_152296.4:c.947G>T	NP_689509.1:p.Gly316Val
XM_011526991.1:c.857G>T	XP_011525293.1:p.Gly286Val
NM_152296.5:c.947G>T MANE Select	NP_689509.1:p.Gly316Val
NM_001256214.2:c.986G>T	NP_001243143.1:p.Gly329Val
NM_001256213.2:c.980G>T	NP_001243142.1:p.Gly327Val