Canonical Allele Identifier: CA393373920
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757719
ClinVar RCV Id: RCV003567359
MyVariant Identifiers: chr15:g.85383475A>T (hg19) chr15:g.84840244A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840244A>T , CM000677.2:g.84840244A>T GRCh38
NC_000015.9:g.85383475A>T , CM000677.1:g.85383475A>T GRCh37
NC_000015.8:g.83184479A>T NCBI36
NG_054748.1:g.28614A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.965A>T MANE Select ENSP00000258888.6:p.Glu322Val
ENST00000258888.5:c.1571A>T ENSP00000258888.5:p.Glu524Val
NM_020778.4:c.1571A>T NP_065829.3:p.Glu524Val
NM_020778.5:c.965A>T MANE Select NP_065829.4:p.Glu322Val
Search 100 bp 5'
Search 100 bp 3'