Canonical Allele Identifier: CA961908

Gene: ALG14

Linked Data

• ClinVar Variation Id: 376840
• ClinVar RCV Id: RCV000432703 ; RCV000503682 ; RCV001257053 ; RCV002480277 ; RCV003343807 ; RCV003343806 ; RCV003932543
• dbSNP Id: rs34364382
• ExAC: 1:95538424 C / T
• gnomAD v2: 1-95538424-C-T
• gnomAD v3: 1-95072868-C-T
• gnomAD v4: 1-95072868-C-T
• MyVariant Identifiers: chr1:g.95538424C>T (hg19) ; chr1:g.95072868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.95072868C>T , CM000663.2:g.95072868C>T	GRCh38
NC_000001.10:g.95538424C>T , CM000663.1:g.95538424C>T	GRCh37
NC_000001.9:g.95311012C>T	NCBI36
NG_042044.1:g.5084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370205.6:c.31G>A MANE Select	ENSP00000359224.4:p.Ala11Thr
ENST00000370205.5:c.31G>A	ENSP00000359224.4:p.Ala11Thr
ENST00000495856.1:n.7G>A
NM_001305242.1:c.31G>A	NP_001292171.1:p.Ala11Thr
NM_144988.3:c.31G>A	NP_659425.1:p.Ala11Thr
NR_131032.1:n.84G>A
XM_005270582.2:c.31G>A	XP_005270639.1:p.Ala11Thr
XM_011540897.1:c.31G>A	XP_011539199.1:p.Ala11Thr
XR_946568.1:n.96G>A
XM_005270582.4:c.31G>A	XP_005270639.1:p.Ala11Thr
XM_011540897.2:c.31G>A	XP_011539199.1:p.Ala11Thr
XR_001737024.1:n.107G>A
XR_001737025.1:n.107G>A
XR_946568.3:n.106G>A
NM_144988.4:c.31G>A MANE Select	NP_659425.1:p.Ala11Thr
NM_001305242.2:c.31G>A	NP_001292171.1:p.Ala11Thr
NR_131032.2:n.84G>A