Canonical Allele Identifier: CA7709143
Gene: ALPK3 HGNC NCBI

Linked Data

dbSNP Id: rs776620295
ExAC: 15:85383724 C / T
gnomAD v2: 15-85383724-C-T
gnomAD v4: 15-84840493-C-T
MyVariant Identifiers: chr15:g.85383724C>T (hg19) chr15:g.84840493C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840493C>T , CM000677.2:g.84840493C>T GRCh38
NC_000015.9:g.85383724C>T , CM000677.1:g.85383724C>T GRCh37
NC_000015.8:g.83184728C>T NCBI36
NG_054748.1:g.28863C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1214C>T MANE Select ENSP00000258888.6:p.Pro405Leu
ENST00000258888.5:c.1820C>T ENSP00000258888.5:p.Pro607Leu
NM_020778.4:c.1820C>T NP_065829.3:p.Pro607Leu
NM_020778.5:c.1214C>T MANE Select NP_065829.4:p.Pro405Leu
Search 100 bp 5'
Search 100 bp 3'