Canonical Allele Identifier: CA7709158
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486655
ClinVar RCV Id: RCV002003759 RCV003170403
dbSNP Id: rs115200412
ExAC: 15:85383796 T / C
gnomAD v2: 15-85383796-T-C
gnomAD v3: 15-84840565-T-C
gnomAD v4: 15-84840565-T-C
MyVariant Identifiers: chr15:g.85383796T>C (hg19) chr15:g.84840565T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840565T>C , CM000677.2:g.84840565T>C GRCh38
NC_000015.9:g.85383796T>C , CM000677.1:g.85383796T>C GRCh37
NC_000015.8:g.83184800T>C NCBI36
NG_054748.1:g.28935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1286T>C MANE Select ENSP00000258888.6:p.Leu429Pro
ENST00000258888.5:c.1892T>C ENSP00000258888.5:p.Leu631Pro
NM_020778.4:c.1892T>C NP_065829.3:p.Leu631Pro
NM_020778.5:c.1286T>C MANE Select NP_065829.4:p.Leu429Pro
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