Canonical Allele Identifier: CA507695445
Gene: ATP1A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.42489190G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985038G>A , CM000681.2:g.41985038G>A GRCh38
NC_000019.9:g.42489190G>A , CM000681.1:g.42489190G>A GRCh37
NC_000019.8:g.47181030G>A NCBI36
NG_008015.1:g.14193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.912C>T ENSP00000444688.1:p.Phe304=
ENST00000644613.1:c.873C>T ENSP00000494711.1:p.Phe291=
ENST00000648268.1:c.873C>T MANE Select ENSP00000498113.1:p.Phe291=
ENST00000302102.9:c.873C>T ENSP00000302397.5:p.Phe291=
ENST00000441343.5:c.873C>T ENSP00000411503.1:p.Phe291=
ENST00000485672.2:n.186C>T
ENST00000543770.5:c.906C>T ENSP00000437577.1:p.Phe302=
ENST00000545399.5:c.912C>T ENSP00000444688.1:p.Phe304=
ENST00000602133.5:c.783C>T ENSP00000471581.1:p.Phe261=
NM_001256213.1:c.906C>T NP_001243142.1:p.Phe302=
NM_001256214.1:c.912C>T NP_001243143.1:p.Phe304=
NM_152296.4:c.873C>T NP_689509.1:p.Phe291=
XM_011526991.1:c.783C>T XP_011525293.1:p.Phe261=
NM_152296.5:c.873C>T MANE Select NP_689509.1:p.Phe291=
NM_001256214.2:c.912C>T NP_001243143.1:p.Phe304=
NM_001256213.2:c.906C>T NP_001243142.1:p.Phe302=