Canonical Allele Identifier: CA492277379
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2811221
ClinVar RCV Id: RCV003682780
MyVariant Identifiers: chr15:g.85383785A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840554A>G , CM000677.2:g.84840554A>G GRCh38
NC_000015.9:g.85383785A>G , CM000677.1:g.85383785A>G GRCh37
NC_000015.8:g.83184789A>G NCBI36
NG_054748.1:g.28924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1275A>G MANE Select ENSP00000258888.6:p.Ala425=
ENST00000258888.5:c.1881A>G ENSP00000258888.5:p.Ala627=
NM_020778.4:c.1881A>G NP_065829.3:p.Ala627=
NM_020778.5:c.1275A>G MANE Select NP_065829.4:p.Ala425=