Canonical Allele Identifier: CA9467655
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 377531
dbSNP Id: rs150785666

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41981552G>A , CM000681.2:g.41981552G>A GRCh38
NC_000019.9:g.42485704G>A , CM000681.1:g.42485704G>A GRCh37
NC_000019.8:g.47177544G>A NCBI36
NG_008015.1:g.17679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1426C>T ENSP00000444688.1:p.Arg476Cys
ENST00000644613.1:c.1387C>T ENSP00000494711.1:p.Arg463Cys
ENST00000648268.1:c.1387C>T MANE Select ENSP00000498113.1:p.Arg463Cys
ENST00000302102.9:c.1387C>T ENSP00000302397.5:p.Arg463Cys
ENST00000441343.5:c.1387C>T ENSP00000411503.1:p.Arg463Cys
ENST00000543770.5:c.1420C>T ENSP00000437577.1:p.Arg474Cys
ENST00000545399.5:c.1426C>T ENSP00000444688.1:p.Arg476Cys
ENST00000602133.5:c.1297C>T ENSP00000471581.1:p.Arg433Cys
NM_001256213.1:c.1420C>T NP_001243142.1:p.Arg474Cys
NM_001256214.1:c.1426C>T NP_001243143.1:p.Arg476Cys
NM_152296.4:c.1387C>T NP_689509.1:p.Arg463Cys
XM_011526991.1:c.1297C>T XP_011525293.1:p.Arg433Cys
NM_152296.5:c.1387C>T MANE Select NP_689509.1:p.Arg463Cys
NM_001256214.2:c.1426C>T NP_001243143.1:p.Arg476Cys
NM_001256213.2:c.1420C>T NP_001243142.1:p.Arg474Cys