Canonical Allele Identifier: CA393372461
Gene: ALPK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.85382944A>C (hg19) chr15:g.84839713A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839713A>C , CM000677.2:g.84839713A>C GRCh38
NC_000015.9:g.85382944A>C , CM000677.1:g.85382944A>C GRCh37
NC_000015.8:g.83183948A>C NCBI36
NG_054748.1:g.28083A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.434A>C MANE Select ENSP00000258888.6:p.Glu145Ala
ENST00000258888.5:c.1040A>C ENSP00000258888.5:p.Glu347Ala
NM_020778.4:c.1040A>C NP_065829.3:p.Glu347Ala
NM_020778.5:c.434A>C MANE Select NP_065829.4:p.Glu145Ala
Search 100 bp 5'
Search 100 bp 3'