Canonical Allele Identifier: CA507586594
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 797023
ClinVar RCV Id: RCV001407458
dbSNP Id: rs1599715179
MyVariant Identifiers: chr19:g.42482159G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978007G>A , CM000681.2:g.41978007G>A GRCh38
NC_000019.9:g.42482159G>A , CM000681.1:g.42482159G>A GRCh37
NC_000019.8:g.47173999G>A NCBI36
NG_008015.1:g.21224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1911C>T ENSP00000444688.1:p.Ile637=
ENST00000644613.1:c.1872C>T ENSP00000494711.1:p.Ile624=
ENST00000648268.1:c.1872C>T MANE Select ENSP00000498113.1:p.Ile624=
ENST00000302102.9:c.1872C>T ENSP00000302397.5:p.Ile624=
ENST00000441343.5:c.1872C>T ENSP00000411503.1:p.Ile624=
ENST00000543770.5:c.1905C>T ENSP00000437577.1:p.Ile635=
ENST00000545399.5:c.1911C>T ENSP00000444688.1:p.Ile637=
ENST00000602133.5:c.1782C>T ENSP00000471581.1:p.Ile594=
NM_001256213.1:c.1905C>T NP_001243142.1:p.Ile635=
NM_001256214.1:c.1911C>T NP_001243143.1:p.Ile637=
NM_152296.4:c.1872C>T NP_689509.1:p.Ile624=
XM_011526991.1:c.1782C>T XP_011525293.1:p.Ile594=
NM_152296.5:c.1872C>T MANE Select NP_689509.1:p.Ile624=
NM_001256214.2:c.1911C>T NP_001243143.1:p.Ile637=
NM_001256213.2:c.1905C>T NP_001243142.1:p.Ile635=