Canonical Allele Identifier: CA341233
Gene: ATP1A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12909
ClinVar RCV Id: RCV000013772
dbSNP Id: rs80356534

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978041G>A , CM000681.2:g.41978041G>A GRCh38
NC_000019.9:g.42482193G>A , CM000681.1:g.42482193G>A GRCh37
NC_000019.8:g.47174033G>A NCBI36
NG_008015.1:g.21190C>T

Transcript Alleles

HGVS Amino-acid change
NM_001256213.1:c.1871C>T VV NP_001243142.1:p.Thr624Met
NM_001256214.1:c.1877C>T VV NP_001243143.1:p.Thr626Met
NM_152296.4:c.1838C>T VV NP_689509.1:p.Thr613Met
XM_011526991.1:c.1748C>T XP_011525293.1:p.Thr583Met
NM_152296.5:c.1838C>T VV NP_689509.1:p.Thr613Met
ENST00000302102.9:c.1838C>T ENSP00000302397.5:p.Thr613Met
ENST00000441343.5:c.1838C>T ENSP00000411503.1:p.Thr613Met
ENST00000543770.5:c.1871C>T ENSP00000437577.1:p.Thr624Met
ENST00000545399.5:c.1877C>T ENSP00000444688.1:p.Thr626Met
ENST00000602133.5:c.1748C>T ENSP00000471581.1:p.Thr583Met