Canonical Allele Identifier: CA421600258
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs771003528
MyVariant Identifiers: chr1:g.160099984C>T (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1554C>T MANE Select ENSP00000354490.3:p.Ile518=
ENST00000361216.7:c.1554C>T ENSP00000354490.3:p.Ile518=
ENST00000392233.7:c.1554C>T ENSP00000376066.3:p.Ile518=
ENST00000447527.1:c.686C>T
ENST00000472488.5:n.1657C>T
NM_000702.3:c.1554C>T NP_000693.1:p.Ile518=
NM_000702.4:c.1554C>T MANE Select NP_000693.1:p.Ile518=
Search 100 bp 5'
Search 100 bp 3'