Canonical Allele Identifier: CA346005
Gene: ATP1A3 HGNC NCBI

Linked Data

dbSNP Id: rs606231431
MyVariant Identifiers: chr19:g.42486249T>G (hg19) chr19:g.41982097T>G (hg38)
PubMed: PMID:20301294
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41982097T>G , CM000681.2:g.41982097T>G GRCh38
NC_000019.9:g.42486249T>G , CM000681.1:g.42486249T>G GRCh37
NC_000019.8:g.47178089T>G NCBI36
NG_008015.1:g.17134A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000545399.6:c.1042A>C ENSP00000444688.1:p.Thr348Pro
ENST00000644613.1:c.1003A>C ENSP00000494711.1:p.Thr335Pro
ENST00000648268.1:c.1003A>C MANE Select ENSP00000498113.1:p.Thr335Pro
ENST00000302102.9:c.1003A>C ENSP00000302397.5:p.Thr335Pro
ENST00000441343.5:c.1003A>C ENSP00000411503.1:p.Thr335Pro
ENST00000543770.5:c.1036A>C ENSP00000437577.1:p.Thr346Pro
ENST00000545399.5:c.1042A>C ENSP00000444688.1:p.Thr348Pro
ENST00000602133.5:c.913A>C ENSP00000471581.1:p.Thr305Pro
NM_001256213.1:c.1036A>C NP_001243142.1:p.Thr346Pro
NM_001256214.1:c.1042A>C NP_001243143.1:p.Thr348Pro
NM_152296.4:c.1003A>C NP_689509.1:p.Thr335Pro
XM_011526991.1:c.913A>C XP_011525293.1:p.Thr305Pro
NM_152296.5:c.1003A>C MANE Select NP_689509.1:p.Thr335Pro
NM_001256214.2:c.1042A>C NP_001243143.1:p.Thr348Pro
NM_001256213.2:c.1036A>C NP_001243142.1:p.Thr346Pro
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