Canonical Allele Identifier: CA961857

Gene: ALG14 ALG14-AS1

Linked Data

• ClinVar Variation Id: 383072
• ClinVar RCV Id: RCV000433819 ; RCV001318009 ; RCV003343819 ; RCV003343818
• dbSNP Id: rs139758313
• ExAC: 1:95530570 C / A
• gnomAD v2: 1-95530570-C-A
• gnomAD v3: 1-95065014-C-A
• gnomAD v4: 1-95065014-C-A
• MyVariant Identifiers: chr1:g.95530570C>A (hg19) ; chr1:g.95065014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.95065014C>A , CM000663.2:g.95065014C>A	GRCh38
NC_000001.10:g.95530570C>A , CM000663.1:g.95530570C>A	GRCh37
NC_000001.9:g.95303158C>A	NCBI36
NG_042044.1:g.12938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370205.6:c.140G>T (ALG14) MANE Select	ENSP00000359224.4:p.Gly47Val
ENST00000370205.5:c.140G>T (ALG14)	ENSP00000359224.4:p.Gly47Val
ENST00000495856.1:n.116G>T (ALG14)
NM_001305242.1:c.140G>T (ALG14)	NP_001292171.1:p.Gly47Val
NM_144988.3:c.140G>T (ALG14)	NP_659425.1:p.Gly47Val
NR_131032.1:n.189+7749G>T (ALG14)
NR_132786.1:n.595-2030C>A (ALG14-AS1)
XM_005270582.2:c.140G>T (ALG14)	XP_005270639.1:p.Gly47Val
XM_011540897.1:c.140G>T (ALG14)	XP_011539199.1:p.Gly47Val
XR_946568.1:n.205G>T (ALG14)
XM_005270582.4:c.140G>T (ALG14)	XP_005270639.1:p.Gly47Val
XM_011540897.2:c.140G>T (ALG14)	XP_011539199.1:p.Gly47Val
XR_001737024.1:n.216G>T (ALG14)
XR_001737025.1:n.216G>T (ALG14)
XR_946568.3:n.215G>T (ALG14)
NM_144988.4:c.140G>T (ALG14) MANE Select	NP_659425.1:p.Gly47Val
NM_001305242.2:c.140G>T (ALG14)	NP_001292171.1:p.Gly47Val
NR_131032.2:n.189+7749G>T (ALG14)