Canonical Allele Identifier: CA406039568
Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427156
ClinVar RCV Id: RCV000489928
dbSNP Id: rs1085307992
MyVariant Identifiers: chr19:g.42474630C>G (hg19) chr19:g.41970478C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970478C>G , CM000681.2:g.41970478C>G GRCh38
NC_000019.9:g.42474630C>G , CM000681.1:g.42474630C>G GRCh37
NC_000019.8:g.47166470C>G NCBI36
NG_008015.1:g.28753G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000545399.6:c.2367G>C ENSP00000444688.1:p.Glu789Asp
ENST00000644613.1:c.2328G>C ENSP00000494711.1:p.Glu776Asp
ENST00000648268.1:c.2328G>C MANE Select ENSP00000498113.1:p.Glu776Asp
ENST00000302102.9:c.2328G>C ENSP00000302397.5:p.Glu776Asp
ENST00000441343.5:c.2328G>C ENSP00000411503.1:p.Glu776Asp
ENST00000543770.5:c.2361G>C ENSP00000437577.1:p.Glu787Asp
ENST00000545399.5:c.2367G>C ENSP00000444688.1:p.Glu789Asp
ENST00000602133.5:c.2238G>C ENSP00000471581.1:p.Glu746Asp
NM_001256213.1:c.2361G>C NP_001243142.1:p.Glu787Asp
NM_001256214.1:c.2367G>C NP_001243143.1:p.Glu789Asp
NM_152296.4:c.2328G>C NP_689509.1:p.Glu776Asp
XM_011526991.1:c.2238G>C XP_011525293.1:p.Glu746Asp
NM_152296.5:c.2328G>C MANE Select NP_689509.1:p.Glu776Asp
NM_001256214.2:c.2367G>C NP_001243143.1:p.Glu789Asp
NM_001256213.2:c.2361G>C NP_001243142.1:p.Glu787Asp
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