Canonical Allele Identifier: CA7710120

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 422575
• ClinVar RCV Id: RCV000481589 ; RCV002350072
• dbSNP Id: rs115364627
• ExAC: 15:85411508 A / T
• gnomAD v2: 15-85411508-A-T
• gnomAD v3: 15-84868277-A-T
• gnomAD v4: 15-84868277-A-T
• MyVariant Identifiers: chr15:g.85411508A>T (hg19) ; chr15:g.84868277A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84868277A>T , CM000677.2:g.84868277A>T	GRCh38
NC_000015.9:g.85411508A>T , CM000677.1:g.85411508A>T	GRCh37
NC_000015.8:g.83212512A>T	NCBI36
NG_054748.1:g.56647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258888.6:c.4939A>T MANE Select	ENSP00000258888.6:p.Arg1647Trp
ENST00000258888.5:c.5545A>T	ENSP00000258888.5:p.Arg1849Trp
NM_020778.4:c.5545A>T	NP_065829.3:p.Arg1849Trp
NM_020778.5:c.4939A>T MANE Select	NP_065829.4:p.Arg1647Trp