Canonical Allele Identifier: CA7709157
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367780
ClinVar RCV Id: RCV001964498 RCV002406959
dbSNP Id: rs771706498
ExAC: 15:85383789 A / T
gnomAD v2: 15-85383789-A-T
gnomAD v3: 15-84840558-A-T
gnomAD v4: 15-84840558-A-T
MyVariant Identifiers: chr15:g.85383789A>T (hg19) chr15:g.84840558A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840558A>T , CM000677.2:g.84840558A>T GRCh38
NC_000015.9:g.85383789A>T , CM000677.1:g.85383789A>T GRCh37
NC_000015.8:g.83184793A>T NCBI36
NG_054748.1:g.28928A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1279A>T MANE Select ENSP00000258888.6:p.Arg427Trp
ENST00000258888.5:c.1885A>T ENSP00000258888.5:p.Arg629Trp
NM_020778.4:c.1885A>T NP_065829.3:p.Arg629Trp
NM_020778.5:c.1279A>T MANE Select NP_065829.4:p.Arg427Trp
Search 100 bp 5'
Search 100 bp 3'