Canonical Allele Identifier: CA7709148
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2509606
ClinVar RCV Id: RCV004286078
dbSNP Id: rs758630539
ExAC: 15:85383751 C / T
gnomAD v2: 15-85383751-C-T
gnomAD v3: 15-84840520-C-T
gnomAD v4: 15-84840520-C-T
MyVariant Identifiers: chr15:g.85383751C>T (hg19) chr15:g.84840520C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840520C>T , CM000677.2:g.84840520C>T GRCh38
NC_000015.9:g.85383751C>T , CM000677.1:g.85383751C>T GRCh37
NC_000015.8:g.83184755C>T NCBI36
NG_054748.1:g.28890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1241C>T MANE Select ENSP00000258888.6:p.Ser414Phe
ENST00000258888.5:c.1847C>T ENSP00000258888.5:p.Ser616Phe
NM_020778.4:c.1847C>T NP_065829.3:p.Ser616Phe
NM_020778.5:c.1241C>T MANE Select NP_065829.4:p.Ser414Phe
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