Canonical Allele Identifier: CA343237019
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160097362A>T (hg19) chr1:g.160127572A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127572A>T , CM000663.2:g.160127572A>T GRCh38
NC_000001.10:g.160097362A>T , CM000663.1:g.160097362A>T GRCh37
NC_000001.9:g.158363986A>T NCBI36
NG_008014.1:g.16815A>T , LRG_6:g.16815A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.769A>T MANE Select ENSP00000354490.3:p.Ile257Phe
ENST00000361216.7:c.769A>T ENSP00000354490.3:p.Ile257Phe
ENST00000392233.7:c.769A>T ENSP00000376066.3:p.Ile257Phe
ENST00000472488.5:n.872A>T
NM_000702.3:c.769A>T NP_000693.1:p.Ile257Phe
NM_000702.4:c.769A>T MANE Select NP_000693.1:p.Ile257Phe
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