Canonical Allele Identifier: CA393374051
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444184
ClinVar RCV Id: RCV001981704 RCV002388911
dbSNP Id: rs1273788350
gnomAD v2: 15-85383510-A-G
gnomAD v3: 15-84840279-A-G
gnomAD v4: 15-84840279-A-G
COSMIC: COSM3727911 COSM3727912
MyVariant Identifiers: chr15:g.85383510A>G (hg19) chr15:g.84840279A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840279A>G , CM000677.2:g.84840279A>G GRCh38
NC_000015.9:g.85383510A>G , CM000677.1:g.85383510A>G GRCh37
NC_000015.8:g.83184514A>G NCBI36
NG_054748.1:g.28649A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1000A>G MANE Select ENSP00000258888.6:p.Lys334Glu
ENST00000258888.5:c.1606A>G ENSP00000258888.5:p.Lys536Glu
NM_020778.4:c.1606A>G NP_065829.3:p.Lys536Glu
NM_020778.5:c.1000A>G MANE Select NP_065829.4:p.Lys334Glu
Search 100 bp 5'
Search 100 bp 3'