Canonical Allele Identifier: CA343244442
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160100346G>A (hg19) chr1:g.160130556G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130556G>A , CM000663.2:g.160130556G>A GRCh38
NC_000001.10:g.160100346G>A , CM000663.1:g.160100346G>A GRCh37
NC_000001.9:g.158366970G>A NCBI36
NG_008014.1:g.19799G>A , LRG_6:g.19799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1786G>A MANE Select ENSP00000354490.3:p.Val596Met
ENST00000361216.7:c.1786G>A ENSP00000354490.3:p.Val596Met
ENST00000392233.7:c.1786G>A ENSP00000376066.3:p.Val596Met
ENST00000447527.1:c.918G>A
ENST00000472488.5:n.1889G>A
NM_000702.3:c.1786G>A NP_000693.1:p.Val596Met
NM_000702.4:c.1786G>A MANE Select NP_000693.1:p.Val596Met
Search 100 bp 5'
Search 100 bp 3'