Canonical Allele Identifier: CA406052579

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41985017-G-C
• MyVariant Identifiers: chr19:g.42489169G>C (hg19) ; chr19:g.41985017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985017G>C , CM000681.2:g.41985017G>C	GRCh38
NC_000019.9:g.42489169G>C , CM000681.1:g.42489169G>C	GRCh37
NC_000019.8:g.47181009G>C	NCBI36
NG_008015.1:g.14214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.933C>G	ENSP00000444688.1:p.Ile311Met
ENST00000644613.1:c.894C>G	ENSP00000494711.1:p.Ile298Met
ENST00000648268.1:c.894C>G MANE Select	ENSP00000498113.1:p.Ile298Met
ENST00000302102.9:c.894C>G	ENSP00000302397.5:p.Ile298Met
ENST00000441343.5:c.894C>G	ENSP00000411503.1:p.Ile298Met
ENST00000485672.2:n.207C>G
ENST00000543770.5:c.927C>G	ENSP00000437577.1:p.Ile309Met
ENST00000545399.5:c.933C>G	ENSP00000444688.1:p.Ile311Met
ENST00000602133.5:c.804C>G	ENSP00000471581.1:p.Ile268Met
NM_001256213.1:c.927C>G	NP_001243142.1:p.Ile309Met
NM_001256214.1:c.933C>G	NP_001243143.1:p.Ile311Met
NM_152296.4:c.894C>G	NP_689509.1:p.Ile298Met
XM_011526991.1:c.804C>G	XP_011525293.1:p.Ile268Met
NM_152296.5:c.894C>G MANE Select	NP_689509.1:p.Ile298Met
NM_001256214.2:c.933C>G	NP_001243143.1:p.Ile311Met
NM_001256213.2:c.927C>G	NP_001243142.1:p.Ile309Met