Canonical Allele Identifier: CA122785
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12926
ClinVar RCV Id: RCV000013789 RCV000423537 RCV001851832 RCV004555532 RCV003448245
dbSNP Id: rs121918616
gnomAD v2: 1-160100073-G-A
gnomAD v4: 1-160130283-G-A
MyVariant Identifiers: chr1:g.160100073G>A (hg19) chr1:g.160130283G>A (hg38)
PubMed: PMID:16344534
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130283G>A , CM000663.2:g.160130283G>A GRCh38
NC_000001.10:g.160100073G>A , CM000663.1:g.160100073G>A GRCh37
NC_000001.9:g.158366697G>A NCBI36
NG_008014.1:g.19526G>A , LRG_6:g.19526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1643G>A MANE Select ENSP00000354490.3:p.Arg548His
ENST00000361216.7:c.1643G>A ENSP00000354490.3:p.Arg548His
ENST00000392233.7:c.1643G>A ENSP00000376066.3:p.Arg548His
ENST00000447527.1:c.775G>A
ENST00000472488.5:n.1746G>A
NM_000702.3:c.1643G>A NP_000693.1:p.Arg548His
NM_000702.4:c.1643G>A MANE Select NP_000693.1:p.Arg548His
Search 100 bp 5'
Search 100 bp 3'