Canonical Allele Identifier: CA7708994
Gene: ALPK3 HGNC NCBI

Linked Data

dbSNP Id: rs764912970
ExAC: 15:85383056 C / A
gnomAD v2: 15-85383056-C-A
gnomAD v4: 15-84839825-C-A
MyVariant Identifiers: chr15:g.85383056C>A (hg19) chr15:g.84839825C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839825C>A , CM000677.2:g.84839825C>A GRCh38
NC_000015.9:g.85383056C>A , CM000677.1:g.85383056C>A GRCh37
NC_000015.8:g.83184060C>A NCBI36
NG_054748.1:g.28195C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.546C>A MANE Select ENSP00000258888.6:p.Phe182Leu
ENST00000258888.5:c.1152C>A ENSP00000258888.5:p.Phe384Leu
NM_020778.4:c.1152C>A NP_065829.3:p.Phe384Leu
NM_020778.5:c.546C>A MANE Select NP_065829.4:p.Phe182Leu
Search 100 bp 5'
Search 100 bp 3'