Canonical Allele Identifier: CA421599366
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160097350A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127560A>C , CM000663.2:g.160127560A>C GRCh38
NC_000001.10:g.160097350A>C , CM000663.1:g.160097350A>C GRCh37
NC_000001.9:g.158363974A>C NCBI36
NG_008014.1:g.16803A>C , LRG_6:g.16803A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.757A>C MANE Select ENSP00000354490.3:p.Arg253=
ENST00000361216.7:c.757A>C ENSP00000354490.3:p.Arg253=
ENST00000392233.7:c.757A>C ENSP00000376066.3:p.Arg253=
ENST00000472488.5:n.860A>C
NM_000702.3:c.757A>C NP_000693.1:p.Arg253=
NM_000702.4:c.757A>C MANE Select NP_000693.1:p.Arg253=