Canonical Allele Identifier: CA393374215

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 1398828
• ClinVar RCV Id: RCV001915260 ; RCV002388795
• dbSNP Id: rs2141556874
• gnomAD v4: 15-84840322-G-A
• MyVariant Identifiers: chr15:g.85383553G>A (hg19) ; chr15:g.84840322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84840322G>A , CM000677.2:g.84840322G>A	GRCh38
NC_000015.9:g.85383553G>A , CM000677.1:g.85383553G>A	GRCh37
NC_000015.8:g.83184557G>A	NCBI36
NG_054748.1:g.28692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258888.6:c.1043G>A MANE Select	ENSP00000258888.6:p.Ser348Asn
ENST00000258888.5:c.1649G>A	ENSP00000258888.5:p.Ser550Asn
NM_020778.4:c.1649G>A	NP_065829.3:p.Ser550Asn
NM_020778.5:c.1043G>A MANE Select	NP_065829.4:p.Ser348Asn