Canonical Allele Identifier: CA406045129
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1890T>G ENSP00000444688.1:p.Ile630Met
ENST00000644613.1:c.1851T>G ENSP00000494711.1:p.Ile617Met
ENST00000648268.1:c.1851T>G MANE Select ENSP00000498113.1:p.Ile617Met
ENST00000302102.9:c.1851T>G ENSP00000302397.5:p.Ile617Met
ENST00000441343.5:c.1851T>G ENSP00000411503.1:p.Ile617Met
ENST00000543770.5:c.1884T>G ENSP00000437577.1:p.Ile628Met
ENST00000545399.5:c.1890T>G ENSP00000444688.1:p.Ile630Met
ENST00000602133.5:c.1761T>G ENSP00000471581.1:p.Ile587Met
NM_001256213.1:c.1884T>G NP_001243142.1:p.Ile628Met
NM_001256214.1:c.1890T>G NP_001243143.1:p.Ile630Met
NM_152296.4:c.1851T>G NP_689509.1:p.Ile617Met
XM_011526991.1:c.1761T>G XP_011525293.1:p.Ile587Met
NM_152296.5:c.1851T>G MANE Select NP_689509.1:p.Ile617Met
NM_001256214.2:c.1890T>G NP_001243143.1:p.Ile630Met
NM_001256213.2:c.1884T>G NP_001243142.1:p.Ile628Met