Canonical Allele Identifier: CA7708984
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1779528
ClinVar RCV Id: RCV003100817 RCV002407586
dbSNP Id: rs746193175
ExAC: 15:85382963 G / A
gnomAD v2: 15-85382963-G-A
gnomAD v3: 15-84839732-G-A
gnomAD v4: 15-84839732-G-A
MyVariant Identifiers: chr15:g.85382963G>A (hg19) chr15:g.84839732G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839732G>A , CM000677.2:g.84839732G>A GRCh38
NC_000015.9:g.85382963G>A , CM000677.1:g.85382963G>A GRCh37
NC_000015.8:g.83183967G>A NCBI36
NG_054748.1:g.28102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.453G>A MANE Select ENSP00000258888.6:p.Gln151=
ENST00000258888.5:c.1059G>A ENSP00000258888.5:p.Gln353=
NM_020778.4:c.1059G>A NP_065829.3:p.Gln353=
NM_020778.5:c.453G>A MANE Select NP_065829.4:p.Gln151=
Search 100 bp 5'
Search 100 bp 3'