Canonical Allele Identifier: CA343239223
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043305
ClinVar RCV Id: RCV001347393
dbSNP Id: rs1454080069
gnomAD v2: 1-160098481-A-T
gnomAD v4: 1-160128691-A-T
MyVariant Identifiers: chr1:g.160098481A>T (hg19) chr1:g.160128691A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160128691A>T , CM000663.2:g.160128691A>T GRCh38
NC_000001.10:g.160098481A>T , CM000663.1:g.160098481A>T GRCh37
NC_000001.9:g.158365105A>T NCBI36
NG_008014.1:g.17934A>T , LRG_6:g.17934A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1057A>T MANE Select ENSP00000354490.3:p.Asn353Tyr
ENST00000361216.7:c.1057A>T ENSP00000354490.3:p.Asn353Tyr
ENST00000392233.7:c.1057A>T ENSP00000376066.3:p.Asn353Tyr
ENST00000447527.1:c.189A>T
ENST00000472488.5:n.1160A>T
NM_000702.3:c.1057A>T NP_000693.1:p.Asn353Tyr
NM_000702.4:c.1057A>T MANE Select NP_000693.1:p.Asn353Tyr
Search 100 bp 5'
Search 100 bp 3'