Canonical Allele Identifier: CA346049
Gene: ATP1A3 HGNC NCBI

Linked Data

dbSNP Id: rs573535377
MyVariant Identifiers: chr19:g.42486143G>T (hg19) chr19:g.41981991G>T (hg38)
PubMed: PMID:20301294
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41981991G>T , CM000681.2:g.41981991G>T GRCh38
NC_000019.9:g.42486143G>T , CM000681.1:g.42486143G>T GRCh37
NC_000019.8:g.47177983G>T NCBI36
NG_008015.1:g.17240C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545399.6:c.1148C>A ENSP00000444688.1:p.Thr383Asn
ENST00000644613.1:c.1109C>A ENSP00000494711.1:p.Thr370Asn
ENST00000648268.1:c.1109C>A MANE Select ENSP00000498113.1:p.Thr370Asn
ENST00000302102.9:c.1109C>A ENSP00000302397.5:p.Thr370Asn
ENST00000441343.5:c.1109C>A ENSP00000411503.1:p.Thr370Asn
ENST00000543770.5:c.1142C>A ENSP00000437577.1:p.Thr381Asn
ENST00000545399.5:c.1148C>A ENSP00000444688.1:p.Thr383Asn
ENST00000602133.5:c.1019C>A ENSP00000471581.1:p.Thr340Asn
NM_001256213.1:c.1142C>A NP_001243142.1:p.Thr381Asn
NM_001256214.1:c.1148C>A NP_001243143.1:p.Thr383Asn
NM_152296.4:c.1109C>A NP_689509.1:p.Thr370Asn
XM_011526991.1:c.1019C>A XP_011525293.1:p.Thr340Asn
NM_152296.5:c.1109C>A MANE Select NP_689509.1:p.Thr370Asn
NM_001256214.2:c.1148C>A NP_001243143.1:p.Thr383Asn
NM_001256213.2:c.1142C>A NP_001243142.1:p.Thr381Asn
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