Canonical Allele Identifier: CA421600363
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1648857
ClinVar RCV Id: RCV002141406
dbSNP Id: rs1553245135
gnomAD v3: 1-160130287-G-A
gnomAD v4: 1-160130287-G-A
MyVariant Identifiers: chr1:g.160100077G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130287G>A , CM000663.2:g.160130287G>A GRCh38
NC_000001.10:g.160100077G>A , CM000663.1:g.160100077G>A GRCh37
NC_000001.9:g.158366701G>A NCBI36
NG_008014.1:g.19530G>A , LRG_6:g.19530G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1647G>A MANE Select ENSP00000354490.3:p.Val549=
ENST00000361216.7:c.1647G>A ENSP00000354490.3:p.Val549=
ENST00000392233.7:c.1647G>A ENSP00000376066.3:p.Val549=
ENST00000447527.1:c.779G>A
ENST00000472488.5:n.1750G>A
NM_000702.3:c.1647G>A NP_000693.1:p.Val549=
NM_000702.4:c.1647G>A MANE Select NP_000693.1:p.Val549=
Search 100 bp 5'
Search 100 bp 3'