Canonical Allele Identifier: CA406045652

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42482372C>T (hg19) ; chr19:g.41978220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978220C>T , CM000681.2:g.41978220C>T	GRCh38
NC_000019.9:g.42482372C>T , CM000681.1:g.42482372C>T	GRCh37
NC_000019.8:g.47174212C>T	NCBI36
NG_008015.1:g.21011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1776G>A	ENSP00000444688.1:p.Met592Ile
ENST00000644613.1:c.1737G>A	ENSP00000494711.1:p.Met579Ile
ENST00000648268.1:c.1737G>A MANE Select	ENSP00000498113.1:p.Met579Ile
ENST00000302102.9:c.1737G>A	ENSP00000302397.5:p.Met579Ile
ENST00000441343.5:c.1737G>A	ENSP00000411503.1:p.Met579Ile
ENST00000543770.5:c.1770G>A	ENSP00000437577.1:p.Met590Ile
ENST00000545399.5:c.1776G>A	ENSP00000444688.1:p.Met592Ile
ENST00000602133.5:c.1647G>A	ENSP00000471581.1:p.Met549Ile
NM_001256213.1:c.1770G>A	NP_001243142.1:p.Met590Ile
NM_001256214.1:c.1776G>A	NP_001243143.1:p.Met592Ile
NM_152296.4:c.1737G>A	NP_689509.1:p.Met579Ile
XM_011526991.1:c.1647G>A	XP_011525293.1:p.Met549Ile
NM_152296.5:c.1737G>A MANE Select	NP_689509.1:p.Met579Ile
NM_001256214.2:c.1776G>A	NP_001243143.1:p.Met592Ile
NM_001256213.2:c.1770G>A	NP_001243142.1:p.Met590Ile