Canonical Allele Identifier: CA7708983
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1933111
ClinVar RCV Id: RCV002635789
dbSNP Id: rs776988513
ExAC: 15:85382956 T / C
gnomAD v2: 15-85382956-T-C
gnomAD v4: 15-84839725-T-C
MyVariant Identifiers: chr15:g.85382956T>C (hg19) chr15:g.84839725T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839725T>C , CM000677.2:g.84839725T>C GRCh38
NC_000015.9:g.85382956T>C , CM000677.1:g.85382956T>C GRCh37
NC_000015.8:g.83183960T>C NCBI36
NG_054748.1:g.28095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.446T>C MANE Select ENSP00000258888.6:p.Ile149Thr
ENST00000258888.5:c.1052T>C ENSP00000258888.5:p.Ile351Thr
NM_020778.4:c.1052T>C NP_065829.3:p.Ile351Thr
NM_020778.5:c.446T>C MANE Select NP_065829.4:p.Ile149Thr
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