Canonical Allele Identifier: CA393372474

Gene: ALPK3

Linked Data

• dbSNP Id: rs1350523825
• gnomAD v2: 15-85382949-G-A
• gnomAD v4: 15-84839718-G-A
• MyVariant Identifiers: chr15:g.85382949G>A (hg19) ; chr15:g.84839718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84839718G>A , CM000677.2:g.84839718G>A	GRCh38
NC_000015.9:g.85382949G>A , CM000677.1:g.85382949G>A	GRCh37
NC_000015.8:g.83183953G>A	NCBI36
NG_054748.1:g.28088G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258888.6:c.439G>A MANE Select	ENSP00000258888.6:p.Ala147Thr
ENST00000258888.5:c.1045G>A	ENSP00000258888.5:p.Ala349Thr
NM_020778.4:c.1045G>A	NP_065829.3:p.Ala349Thr
NM_020778.5:c.439G>A MANE Select	NP_065829.4:p.Ala147Thr