Canonical Allele Identifier: CA2192368387
Gene: ALPK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840564C= , CM000677.2:g.84840564C= GRCh38
NC_000015.9:g.85383795C= , CM000677.1:g.85383795C= GRCh37
NC_000015.8:g.83184799C= NCBI36
NG_054748.1:g.28934C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1285C= MANE Select ENSP00000258888.6:p.Leu429=
ENST00000258888.5:c.1891C= ENSP00000258888.5:p.Leu631=
NM_020778.4:c.1891C= NP_065829.3:p.Leu631=
NM_020778.5:c.1285C= MANE Select NP_065829.4:p.Leu429=
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