Canonical Allele Identifier: CA7709160

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 1404953
• ClinVar RCV Id: RCV001903487 ; RCV002407044
• dbSNP Id: rs754238381
• ExAC: 15:85383814 A / G
• gnomAD v2: 15-85383814-A-G
• gnomAD v3: 15-84840583-A-G
• gnomAD v4: 15-84840583-A-G
• MyVariant Identifiers: chr15:g.85383814A>G (hg19) ; chr15:g.84840583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84840583A>G , CM000677.2:g.84840583A>G	GRCh38
NC_000015.9:g.85383814A>G , CM000677.1:g.85383814A>G	GRCh37
NC_000015.8:g.83184818A>G	NCBI36
NG_054748.1:g.28953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258888.6:c.1304A>G MANE Select	ENSP00000258888.6:p.Gln435Arg
ENST00000258888.5:c.1910A>G	ENSP00000258888.5:p.Gln637Arg
NM_020778.4:c.1910A>G	NP_065829.3:p.Gln637Arg
NM_020778.5:c.1304A>G MANE Select	NP_065829.4:p.Gln435Arg