Canonical Allele Identifier: CA16621741
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425189
dbSNP Id: rs1064797245

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970540G>A , CM000681.2:g.41970540G>A GRCh38
NC_000019.9:g.42474692G>A , CM000681.1:g.42474692G>A GRCh37
NC_000019.8:g.47166532G>A NCBI36
NG_008015.1:g.28691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.2305C>T ENSP00000444688.1:p.Arg769Cys
ENST00000644613.1:c.2266C>T ENSP00000494711.1:p.Arg756Cys
ENST00000648268.1:c.2266C>T MANE Select ENSP00000498113.1:p.Arg756Cys
ENST00000302102.9:c.2266C>T ENSP00000302397.5:p.Arg756Cys
ENST00000441343.5:c.2266C>T ENSP00000411503.1:p.Arg756Cys
ENST00000543770.5:c.2299C>T ENSP00000437577.1:p.Arg767Cys
ENST00000545399.5:c.2305C>T ENSP00000444688.1:p.Arg769Cys
ENST00000602133.5:c.2176C>T ENSP00000471581.1:p.Arg726Cys
NM_001256213.1:c.2299C>T NP_001243142.1:p.Arg767Cys
NM_001256214.1:c.2305C>T NP_001243143.1:p.Arg769Cys
NM_152296.4:c.2266C>T NP_689509.1:p.Arg756Cys
XM_011526991.1:c.2176C>T XP_011525293.1:p.Arg726Cys
NM_152296.5:c.2266C>T MANE Select NP_689509.1:p.Arg756Cys
NM_001256214.2:c.2305C>T NP_001243143.1:p.Arg769Cys
NM_001256213.2:c.2299C>T NP_001243142.1:p.Arg767Cys