Canonical Allele Identifier: CA961846

Gene: ALG14 ALG14-AS1

Linked Data

• ClinVar Variation Id: 389968
• ClinVar RCV Id: RCV000426296 ; RCV000539711 ; RCV001260484
• dbSNP Id: rs769114543
• ExAC: 1:95530490 C / T
• gnomAD v2: 1-95530490-C-T
• gnomAD v3: 1-95064934-C-T
• gnomAD v4: 1-95064934-C-T
• MyVariant Identifiers: chr1:g.95530490C>T (hg19) ; chr1:g.95064934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.95064934C>T , CM000663.2:g.95064934C>T	GRCh38
NC_000001.10:g.95530490C>T , CM000663.1:g.95530490C>T	GRCh37
NC_000001.9:g.95303078C>T	NCBI36
NG_042044.1:g.13018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370205.6:c.220G>A (ALG14) MANE Select	ENSP00000359224.4:p.Asp74Asn
ENST00000370205.5:c.220G>A (ALG14)	ENSP00000359224.4:p.Asp74Asn
ENST00000495856.1:n.196G>A (ALG14)
NM_001305242.1:c.220G>A (ALG14)	NP_001292171.1:p.Asp74Asn
NM_144988.3:c.220G>A (ALG14)	NP_659425.1:p.Asp74Asn
NR_131032.1:n.189+7829G>A (ALG14)
NR_132786.1:n.595-2110C>T (ALG14-AS1)
XM_005270582.2:c.220G>A (ALG14)	XP_005270639.1:p.Asp74Asn
XM_011540897.1:c.220G>A (ALG14)	XP_011539199.1:p.Asp74Asn
XR_946568.1:n.285G>A (ALG14)
XM_005270582.4:c.220G>A (ALG14)	XP_005270639.1:p.Asp74Asn
XM_011540897.2:c.220G>A (ALG14)	XP_011539199.1:p.Asp74Asn
XR_001737024.1:n.296G>A (ALG14)
XR_001737025.1:n.296G>A (ALG14)
XR_946568.3:n.295G>A (ALG14)
NM_144988.4:c.220G>A (ALG14) MANE Select	NP_659425.1:p.Asp74Asn
NM_001305242.2:c.220G>A (ALG14)	NP_001292171.1:p.Asp74Asn
NR_131032.2:n.189+7829G>A (ALG14)