Canonical Allele Identifier: CA171287
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 157926
dbSNP Id: rs2217342

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41985364A>C , CM000681.2:g.41985364A>C GRCh38
NC_000019.9:g.42489516A>C , CM000681.1:g.42489516A>C GRCh37
NC_000019.8:g.47181356A>C NCBI36
NG_008015.1:g.13867T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.705T>G ENSP00000444688.1:p.Thr235=
ENST00000644613.1:c.666T>G ENSP00000494711.1:p.Thr222=
ENST00000645448.1:n.898T>G
ENST00000648268.1:c.666T>G MANE Select ENSP00000498113.1:p.Thr222=
ENST00000302102.9:c.666T>G ENSP00000302397.5:p.Thr222=
ENST00000441343.5:c.666T>G ENSP00000411503.1:p.Thr222=
ENST00000473086.3:c.576T>G ENSP00000469129.2:p.Thr192=
ENST00000543770.5:c.699T>G ENSP00000437577.1:p.Thr233=
ENST00000545399.5:c.705T>G ENSP00000444688.1:p.Thr235=
ENST00000602133.5:c.576T>G ENSP00000471581.1:p.Thr192=
NM_001256213.1:c.699T>G NP_001243142.1:p.Thr233=
NM_001256214.1:c.705T>G NP_001243143.1:p.Thr235=
NM_152296.4:c.666T>G NP_689509.1:p.Thr222=
XM_011526991.1:c.576T>G XP_011525293.1:p.Thr192=
NM_152296.5:c.666T>G MANE Select NP_689509.1:p.Thr222=
NM_001256214.2:c.705T>G NP_001243143.1:p.Thr235=
NM_001256213.2:c.699T>G NP_001243142.1:p.Thr233=