Canonical Allele Identifier: CA406053252

Gene: ATP1A3

Linked Data

• MyVariant Identifiers: chr19:g.42489318C>T (hg19) ; chr19:g.41985166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985166C>T , CM000681.2:g.41985166C>T	GRCh38
NC_000019.9:g.42489318C>T , CM000681.1:g.42489318C>T	GRCh37
NC_000019.8:g.47181158C>T	NCBI36
NG_008015.1:g.14065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.784G>A	ENSP00000444688.1:p.Val262Met
ENST00000644613.1:c.745G>A	ENSP00000494711.1:p.Val249Met
ENST00000648268.1:c.745G>A MANE Select	ENSP00000498113.1:p.Val249Met
ENST00000302102.9:c.745G>A	ENSP00000302397.5:p.Val249Met
ENST00000441343.5:c.745G>A	ENSP00000411503.1:p.Val249Met
ENST00000473086.3:c.655G>A	ENSP00000469129.2:p.Val219Met
ENST00000485672.2:n.58G>A
ENST00000543770.5:c.778G>A	ENSP00000437577.1:p.Val260Met
ENST00000545399.5:c.784G>A	ENSP00000444688.1:p.Val262Met
ENST00000602133.5:c.655G>A	ENSP00000471581.1:p.Val219Met
NM_001256213.1:c.778G>A	NP_001243142.1:p.Val260Met
NM_001256214.1:c.784G>A	NP_001243143.1:p.Val262Met
NM_152296.4:c.745G>A	NP_689509.1:p.Val249Met
XM_011526991.1:c.655G>A	XP_011525293.1:p.Val219Met
NM_152296.5:c.745G>A MANE Select	NP_689509.1:p.Val249Met
NM_001256214.2:c.784G>A	NP_001243143.1:p.Val262Met
NM_001256213.2:c.778G>A	NP_001243142.1:p.Val260Met