Canonical Allele Identifier: CA1194283

Gene: ATP1A2

Linked Data

• dbSNP Id: rs758710770
• ExAC: 1:160097329 C / T
• gnomAD v2: 1-160097329-C-T
• gnomAD v4: 1-160127539-C-T
• MyVariant Identifiers: chr1:g.160097329C>T (hg19) ; chr1:g.160127539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160127539C>T , CM000663.2:g.160127539C>T	GRCh38
NC_000001.10:g.160097329C>T , CM000663.1:g.160097329C>T	GRCh37
NC_000001.9:g.158363953C>T	NCBI36
NG_008014.1:g.16782C>T , LRG_6:g.16782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.749-13C>T MANE Select	ENSP00000354490.3:n.749-13C>T
ENST00000361216.7:c.749-13C>T	ENSP00000354490.3:n.749-13C>T
ENST00000392233.7:c.749-13C>T	ENSP00000376066.3:n.749-13C>T
ENST00000472488.5:n.852-13C>T
NM_000702.3:c.749-13C>T	NP_000693.1:n.749-13C>T
NM_000702.4:c.749-13C>T MANE Select	NP_000693.1:n.749-13C>T