Canonical Allele Identifier: CA406052273

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489114T>G (hg19) ; chr19:g.41984962T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984962T>G , CM000681.2:g.41984962T>G	GRCh38
NC_000019.9:g.42489114T>G , CM000681.1:g.42489114T>G	GRCh37
NC_000019.8:g.47180954T>G	NCBI36
NG_008015.1:g.14269A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.988A>C	ENSP00000444688.1:p.Ile330Leu
ENST00000644613.1:c.949A>C	ENSP00000494711.1:p.Ile317Leu
ENST00000648268.1:c.949A>C MANE Select	ENSP00000498113.1:p.Ile317Leu
ENST00000302102.9:c.949A>C	ENSP00000302397.5:p.Ile317Leu
ENST00000441343.5:c.949A>C	ENSP00000411503.1:p.Ile317Leu
ENST00000485672.2:n.262A>C
ENST00000543770.5:c.982A>C	ENSP00000437577.1:p.Ile328Leu
ENST00000545399.5:c.988A>C	ENSP00000444688.1:p.Ile330Leu
ENST00000602133.5:c.859A>C	ENSP00000471581.1:p.Ile287Leu
NM_001256213.1:c.982A>C	NP_001243142.1:p.Ile328Leu
NM_001256214.1:c.988A>C	NP_001243143.1:p.Ile330Leu
NM_152296.4:c.949A>C	NP_689509.1:p.Ile317Leu
XM_011526991.1:c.859A>C	XP_011525293.1:p.Ile287Leu
NM_152296.5:c.949A>C MANE Select	NP_689509.1:p.Ile317Leu
NM_001256214.2:c.988A>C	NP_001243143.1:p.Ile330Leu
NM_001256213.2:c.982A>C	NP_001243142.1:p.Ile328Leu