Canonical Allele Identifier: CA7709120

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 1644488
• ClinVar RCV Id: RCV002140591 ; RCV002400365
• dbSNP Id: rs143928374
• ExAC: 15:85383602 G / A
• gnomAD v2: 15-85383602-G-A
• gnomAD v3: 15-84840371-G-A
• gnomAD v4: 15-84840371-G-A
• MyVariant Identifiers: chr15:g.85383602G>A (hg19) ; chr15:g.84840371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84840371G>A , CM000677.2:g.84840371G>A	GRCh38
NC_000015.9:g.85383602G>A , CM000677.1:g.85383602G>A	GRCh37
NC_000015.8:g.83184606G>A	NCBI36
NG_054748.1:g.28741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258888.6:c.1092G>A MANE Select	ENSP00000258888.6:p.Glu364=
ENST00000258888.5:c.1698G>A	ENSP00000258888.5:p.Glu566=
NM_020778.4:c.1698G>A	NP_065829.3:p.Glu566=
NM_020778.5:c.1092G>A MANE Select	NP_065829.4:p.Glu364=