Canonical Allele Identifier: CA492277466
Gene: ALPK3 HGNC NCBI

Linked Data

dbSNP Id: rs973211789
gnomAD v4: 15-84840287-C-T
MyVariant Identifiers: chr15:g.85383518C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840287C>T , CM000677.2:g.84840287C>T GRCh38
NC_000015.9:g.85383518C>T , CM000677.1:g.85383518C>T GRCh37
NC_000015.8:g.83184522C>T NCBI36
NG_054748.1:g.28657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1008C>T MANE Select ENSP00000258888.6:p.Ala336=
ENST00000258888.5:c.1614C>T ENSP00000258888.5:p.Ala538=
NM_020778.4:c.1614C>T NP_065829.3:p.Ala538=
NM_020778.5:c.1008C>T MANE Select NP_065829.4:p.Ala336=
Search 100 bp 5'
Search 100 bp 3'