Canonical Allele Identifier: CA961852

Gene: ALG14 ALG14-AS1

Linked Data

• ClinVar Variation Id: 390702
• ClinVar RCV Id: RCV000434792 ; RCV000686830 ; RCV003343825 ; RCV003343824
• dbSNP Id: rs780277809
• ExAC: 1:95530531 G / C
• gnomAD v2: 1-95530531-G-C
• gnomAD v3: 1-95064975-G-C
• gnomAD v4: 1-95064975-G-C
• MyVariant Identifiers: chr1:g.95530531G>C (hg19) ; chr1:g.95064975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.95064975G>C , CM000663.2:g.95064975G>C	GRCh38
NC_000001.10:g.95530531G>C , CM000663.1:g.95530531G>C	GRCh37
NC_000001.9:g.95303119G>C	NCBI36
NG_042044.1:g.12977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370205.6:c.179C>G (ALG14) MANE Select	ENSP00000359224.4:p.Ser60Cys
ENST00000370205.5:c.179C>G (ALG14)	ENSP00000359224.4:p.Ser60Cys
ENST00000495856.1:n.155C>G (ALG14)
NM_001305242.1:c.179C>G (ALG14)	NP_001292171.1:p.Ser60Cys
NM_144988.3:c.179C>G (ALG14)	NP_659425.1:p.Ser60Cys
NR_131032.1:n.189+7788C>G (ALG14)
NR_132786.1:n.595-2069G>C (ALG14-AS1)
XM_005270582.2:c.179C>G (ALG14)	XP_005270639.1:p.Ser60Cys
XM_011540897.1:c.179C>G (ALG14)	XP_011539199.1:p.Ser60Cys
XR_946568.1:n.244C>G (ALG14)
XM_005270582.4:c.179C>G (ALG14)	XP_005270639.1:p.Ser60Cys
XM_011540897.2:c.179C>G (ALG14)	XP_011539199.1:p.Ser60Cys
XR_001737024.1:n.255C>G (ALG14)
XR_001737025.1:n.255C>G (ALG14)
XR_946568.3:n.254C>G (ALG14)
NM_144988.4:c.179C>G (ALG14) MANE Select	NP_659425.1:p.Ser60Cys
NM_001305242.2:c.179C>G (ALG14)	NP_001292171.1:p.Ser60Cys
NR_131032.2:n.189+7788C>G (ALG14)