Canonical Allele Identifier: CA1194520
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs771003528
ExAC: 1:160099984 C / A
gnomAD v2: 1-160099984-C-A
gnomAD v3: 1-160130194-C-A
gnomAD v4: 1-160130194-C-A
MyVariant Identifiers: chr1:g.160099984C>A (hg19) chr1:g.160130194C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130194C>A , CM000663.2:g.160130194C>A GRCh38
NC_000001.10:g.160099984C>A , CM000663.1:g.160099984C>A GRCh37
NC_000001.9:g.158366608C>A NCBI36
NG_008014.1:g.19437C>A , LRG_6:g.19437C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1554C>A MANE Select ENSP00000354490.3:p.Ile518=
ENST00000361216.7:c.1554C>A ENSP00000354490.3:p.Ile518=
ENST00000392233.7:c.1554C>A ENSP00000376066.3:p.Ile518=
ENST00000447527.1:c.686C>A
ENST00000472488.5:n.1657C>A
NM_000702.3:c.1554C>A NP_000693.1:p.Ile518=
NM_000702.4:c.1554C>A MANE Select NP_000693.1:p.Ile518=
Search 100 bp 5'
Search 100 bp 3'