Canonical Allele Identifier: CA343243237
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160099980C>T (hg19) chr1:g.160130190C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130190C>T , CM000663.2:g.160130190C>T GRCh38
NC_000001.10:g.160099980C>T , CM000663.1:g.160099980C>T GRCh37
NC_000001.9:g.158366604C>T NCBI36
NG_008014.1:g.19433C>T , LRG_6:g.19433C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1550C>T MANE Select ENSP00000354490.3:p.Thr517Ile
ENST00000361216.7:c.1550C>T ENSP00000354490.3:p.Thr517Ile
ENST00000392233.7:c.1550C>T ENSP00000376066.3:p.Thr517Ile
ENST00000447527.1:c.682C>T
ENST00000472488.5:n.1653C>T
NM_000702.3:c.1550C>T NP_000693.1:p.Thr517Ile
NM_000702.4:c.1550C>T MANE Select NP_000693.1:p.Thr517Ile
Search 100 bp 5'
Search 100 bp 3'