Canonical Allele Identifier: CA273664932
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3017613
ClinVar RCV Id: RCV003874212
dbSNP Id: rs760195075
gnomAD v3: 15-84839727-T-C
gnomAD v4: 15-84839727-T-C
COSMIC: COSM4578566 COSM4578567
MyVariant Identifiers: chr15:g.85382958T>C (hg19) chr15:g.84839727T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839727T>C , CM000677.2:g.84839727T>C GRCh38
NC_000015.9:g.85382958T>C , CM000677.1:g.85382958T>C GRCh37
NC_000015.8:g.83183962T>C NCBI36
NG_054748.1:g.28097T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.448T>C MANE Select ENSP00000258888.6:p.Tyr150His
ENST00000258888.5:c.1054T>C ENSP00000258888.5:p.Tyr352His
NM_020778.4:c.1054T>C NP_065829.3:p.Tyr352His
NM_020778.5:c.448T>C MANE Select NP_065829.4:p.Tyr150His
Search 100 bp 5'
Search 100 bp 3'