Canonical Allele Identifier: CA4979990

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462882
• ClinVar RCV Id: RCV000546170 ; RCV001564449 ; RCV003935442
• dbSNP Id: rs142004524
• ExAC: 9:6533125 C / T
• gnomAD v2: 9-6533125-C-T
• gnomAD v3: 9-6533125-C-T
• gnomAD v4: 9-6533125-C-T
• COSMIC: COSM1109538
• MyVariant Identifiers: chr9:g.6533125C>T (hg19) ; chr9:g.6533125_6533128delinsTGTT (hg19) ; chr9:g.6533125C>T (hg38) ; chr9:g.6533125_6533128delinsTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6533125C>T , CM000671.2:g.6533125C>T	GRCh38
NC_000009.11:g.6533125C>T , CM000671.1:g.6533125C>T	GRCh37
NC_000009.10:g.6523125C>T	NCBI36
NG_016397.1:g.117568G>A , LRG_643:g.117568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2955G>A MANE Select	ENSP00000370737.4:p.Thr985=
ENST00000638233.1:n.1390G>A
ENST00000638274.1:c.220G>A
ENST00000638661.1:c.1155G>A	ENSP00000491369.1:p.Thr385=
ENST00000638694.1:n.1142G>A
ENST00000639318.1:c.1059G>A	ENSP00000491932.1:p.Thr353=
ENST00000639364.1:n.2655G>A
ENST00000639443.1:n.2523G>A
ENST00000639461.1:n.2056G>A
ENST00000639639.1:c.657G>A	ENSP00000491312.1:p.Thr219=
ENST00000639954.1:n.2663G>A
ENST00000640505.1:n.1194G>A
ENST00000321612.6:c.2955G>A	ENSP00000370737.3:p.Thr985=
ENST00000477960.1:n.536G>A
NM_000170.2:c.2955G>A , LRG_643t1:c.2955G>A	NP_000161.2:p.Thr985=
NM_000170.3:c.2955G>A MANE Select	NP_000161.2:p.Thr985=