Canonical Allele Identifier: CA343243234
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2862560
ClinVar RCV Id: RCV003746183
MyVariant Identifiers: chr1:g.160099979A>G (hg19) chr1:g.160130189A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130189A>G , CM000663.2:g.160130189A>G GRCh38
NC_000001.10:g.160099979A>G , CM000663.1:g.160099979A>G GRCh37
NC_000001.9:g.158366603A>G NCBI36
NG_008014.1:g.19432A>G , LRG_6:g.19432A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1549A>G MANE Select ENSP00000354490.3:p.Thr517Ala
ENST00000361216.7:c.1549A>G ENSP00000354490.3:p.Thr517Ala
ENST00000392233.7:c.1549A>G ENSP00000376066.3:p.Thr517Ala
ENST00000447527.1:c.681A>G
ENST00000472488.5:n.1652A>G
NM_000702.3:c.1549A>G NP_000693.1:p.Thr517Ala
NM_000702.4:c.1549A>G MANE Select NP_000693.1:p.Thr517Ala
Search 100 bp 5'
Search 100 bp 3'