Canonical Allele Identifier: CA507586683
Gene: ATP1A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.42482180A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978028A>T , CM000681.2:g.41978028A>T GRCh38
NC_000019.9:g.42482180A>T , CM000681.1:g.42482180A>T GRCh37
NC_000019.8:g.47174020A>T NCBI36
NG_008015.1:g.21203T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1890T>A ENSP00000444688.1:p.Ile630=
ENST00000644613.1:c.1851T>A ENSP00000494711.1:p.Ile617=
ENST00000648268.1:c.1851T>A MANE Select ENSP00000498113.1:p.Ile617=
ENST00000302102.9:c.1851T>A ENSP00000302397.5:p.Ile617=
ENST00000441343.5:c.1851T>A ENSP00000411503.1:p.Ile617=
ENST00000543770.5:c.1884T>A ENSP00000437577.1:p.Ile628=
ENST00000545399.5:c.1890T>A ENSP00000444688.1:p.Ile630=
ENST00000602133.5:c.1761T>A ENSP00000471581.1:p.Ile587=
NM_001256213.1:c.1884T>A NP_001243142.1:p.Ile628=
NM_001256214.1:c.1890T>A NP_001243143.1:p.Ile630=
NM_152296.4:c.1851T>A NP_689509.1:p.Ile617=
XM_011526991.1:c.1761T>A XP_011525293.1:p.Ile587=
NM_152296.5:c.1851T>A MANE Select NP_689509.1:p.Ile617=
NM_001256214.2:c.1890T>A NP_001243143.1:p.Ile630=
NM_001256213.2:c.1884T>A NP_001243142.1:p.Ile628=