Canonical Allele Identifier: CA7709140

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 1410140
• ClinVar RCV Id: RCV001916301 ; RCV004042866
• dbSNP Id: rs761234447
• ExAC: 15:85383717 C / T
• gnomAD v2: 15-85383717-C-T
• gnomAD v3: 15-84840486-C-T
• gnomAD v4: 15-84840486-C-T
• MyVariant Identifiers: chr15:g.85383717C>T (hg19) ; chr15:g.84840486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84840486C>T , CM000677.2:g.84840486C>T	GRCh38
NC_000015.9:g.85383717C>T , CM000677.1:g.85383717C>T	GRCh37
NC_000015.8:g.83184721C>T	NCBI36
NG_054748.1:g.28856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258888.6:c.1207C>T MANE Select	ENSP00000258888.6:p.Pro403Ser
ENST00000258888.5:c.1813C>T	ENSP00000258888.5:p.Pro605Ser
NM_020778.4:c.1813C>T	NP_065829.3:p.Pro605Ser
NM_020778.5:c.1207C>T MANE Select	NP_065829.4:p.Pro403Ser