Canonical Allele Identifier: CA393372834
Gene: ALPK3 HGNC NCBI

Linked Data

gnomAD v4: 15-84839822-G-C
MyVariant Identifiers: chr15:g.85383053G>C (hg19) chr15:g.84839822G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839822G>C , CM000677.2:g.84839822G>C GRCh38
NC_000015.9:g.85383053G>C , CM000677.1:g.85383053G>C GRCh37
NC_000015.8:g.83184057G>C NCBI36
NG_054748.1:g.28192G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.543G>C MANE Select ENSP00000258888.6:p.Trp181Cys
ENST00000258888.5:c.1149G>C ENSP00000258888.5:p.Trp383Cys
NM_020778.4:c.1149G>C NP_065829.3:p.Trp383Cys
NM_020778.5:c.543G>C MANE Select NP_065829.4:p.Trp181Cys
Search 100 bp 5'
Search 100 bp 3'