Canonical Allele Identifier: CA507695378
Gene: ATP1A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.42489091C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41984939C>T , CM000681.2:g.41984939C>T GRCh38
NC_000019.9:g.42489091C>T , CM000681.1:g.42489091C>T GRCh37
NC_000019.8:g.47180931C>T NCBI36
NG_008015.1:g.14292G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545399.6:c.1011G>A ENSP00000444688.1:p.Glu337=
ENST00000644613.1:c.972G>A ENSP00000494711.1:p.Glu324=
ENST00000648268.1:c.972G>A MANE Select ENSP00000498113.1:p.Glu324=
ENST00000302102.9:c.972G>A ENSP00000302397.5:p.Glu324=
ENST00000441343.5:c.972G>A ENSP00000411503.1:p.Glu324=
ENST00000485672.2:n.285G>A
ENST00000543770.5:c.1005G>A ENSP00000437577.1:p.Glu335=
ENST00000545399.5:c.1011G>A ENSP00000444688.1:p.Glu337=
ENST00000602133.5:c.882G>A ENSP00000471581.1:p.Glu294=
NM_001256213.1:c.1005G>A NP_001243142.1:p.Glu335=
NM_001256214.1:c.1011G>A NP_001243143.1:p.Glu337=
NM_152296.4:c.972G>A NP_689509.1:p.Glu324=
XM_011526991.1:c.882G>A XP_011525293.1:p.Glu294=
NM_152296.5:c.972G>A MANE Select NP_689509.1:p.Glu324=
NM_001256214.2:c.1011G>A NP_001243143.1:p.Glu337=
NM_001256213.2:c.1005G>A NP_001243142.1:p.Glu335=