Canonical Allele Identifier: CA421599397
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160097361G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127571G>C , CM000663.2:g.160127571G>C GRCh38
NC_000001.10:g.160097361G>C , CM000663.1:g.160097361G>C GRCh37
NC_000001.9:g.158363985G>C NCBI36
NG_008014.1:g.16814G>C , LRG_6:g.16814G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.768G>C MANE Select ENSP00000354490.3:p.Val256=
ENST00000361216.7:c.768G>C ENSP00000354490.3:p.Val256=
ENST00000392233.7:c.768G>C ENSP00000376066.3:p.Val256=
ENST00000472488.5:n.871G>C
NM_000702.3:c.768G>C NP_000693.1:p.Val256=
NM_000702.4:c.768G>C MANE Select NP_000693.1:p.Val256=