Canonical Allele Identifier: CA7709992
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1926624
ClinVar RCV Id: RCV002630758
dbSNP Id: rs774980929
ExAC: 15:85406884 C / T
gnomAD v2: 15-85406884-C-T
gnomAD v3: 15-84863653-C-T
gnomAD v4: 15-84863653-C-T
MyVariant Identifiers: chr15:g.85406884C>T (hg19) chr15:g.84863653C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84863653C>T , CM000677.2:g.84863653C>T GRCh38
NC_000015.9:g.85406884C>T , CM000677.1:g.85406884C>T GRCh37
NC_000015.8:g.83207888C>T NCBI36
NG_054748.1:g.52023C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.4499+13C>T MANE Select ENSP00000258888.6:n.4499+13C>T
ENST00000258888.5:c.5105+13C>T ENSP00000258888.5:n.5105+13C>T
ENST00000558077.1:n.112+13C>T
NM_020778.4:c.5105+13C>T NP_065829.3:n.5105+13C>T
NM_020778.5:c.4499+13C>T MANE Select NP_065829.4:n.4499+13C>T
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