Canonical Allele Identifier: CA406053232
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985157C>T , CM000681.2:g.41985157C>T GRCh38
NC_000019.9:g.42489309C>T , CM000681.1:g.42489309C>T GRCh37
NC_000019.8:g.47181149C>T NCBI36
NG_008015.1:g.14074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.793G>A ENSP00000444688.1:p.Gly265Ser
ENST00000644613.1:c.754G>A ENSP00000494711.1:p.Gly252Ser
ENST00000648268.1:c.754G>A MANE Select ENSP00000498113.1:p.Gly252Ser
ENST00000302102.9:c.754G>A ENSP00000302397.5:p.Gly252Ser
ENST00000441343.5:c.754G>A ENSP00000411503.1:p.Gly252Ser
ENST00000473086.3:c.664G>A ENSP00000469129.2:p.Gly222Ser
ENST00000485672.2:n.67G>A
ENST00000543770.5:c.787G>A ENSP00000437577.1:p.Gly263Ser
ENST00000545399.5:c.793G>A ENSP00000444688.1:p.Gly265Ser
ENST00000602133.5:c.664G>A ENSP00000471581.1:p.Gly222Ser
NM_001256213.1:c.787G>A NP_001243142.1:p.Gly263Ser
NM_001256214.1:c.793G>A NP_001243143.1:p.Gly265Ser
NM_152296.4:c.754G>A NP_689509.1:p.Gly252Ser
XM_011526991.1:c.664G>A XP_011525293.1:p.Gly222Ser
NM_152296.5:c.754G>A MANE Select NP_689509.1:p.Gly252Ser
NM_001256214.2:c.793G>A NP_001243143.1:p.Gly265Ser
NM_001256213.2:c.787G>A NP_001243142.1:p.Gly263Ser