Canonical Allele Identifier: CA7709118

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 1477744
• ClinVar RCV Id: RCV001971745 ; RCV003303551
• dbSNP Id: rs774628152
• ExAC: 15:85383591 G / A
• gnomAD v2: 15-85383591-G-A
• gnomAD v3: 15-84840360-G-A
• gnomAD v4: 15-84840360-G-A
• MyVariant Identifiers: chr15:g.85383591G>A (hg19) ; chr15:g.84840360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84840360G>A , CM000677.2:g.84840360G>A	GRCh38
NC_000015.9:g.85383591G>A , CM000677.1:g.85383591G>A	GRCh37
NC_000015.8:g.83184595G>A	NCBI36
NG_054748.1:g.28730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258888.6:c.1081G>A MANE Select	ENSP00000258888.6:p.Val361Met
ENST00000258888.5:c.1687G>A	ENSP00000258888.5:p.Val563Met
NM_020778.4:c.1687G>A	NP_065829.3:p.Val563Met
NM_020778.5:c.1081G>A MANE Select	NP_065829.4:p.Val361Met