Canonical Allele Identifier: CA372881200
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 580932
ClinVar RCV Id: RCV000704610
dbSNP Id: rs386833542
gnomAD v2: 9-6556173-C-T
gnomAD v4: 9-6556173-C-T
COSMIC: COSM266593
MyVariant Identifiers: chr9:g.6556173C>T (hg19) chr9:g.6556173C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556173C>T , CM000671.2:g.6556173C>T GRCh38
NC_000009.11:g.6556173C>T , CM000671.1:g.6556173C>T GRCh37
NC_000009.10:g.6546173C>T NCBI36
NG_016397.1:g.94520G>A , LRG_643:g.94520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2182G>A MANE Select ENSP00000370737.4:p.Gly728Arg
ENST00000638233.1:n.617G>A
ENST00000638661.1:c.382G>A ENSP00000491369.1:p.Gly128Arg
ENST00000638694.1:n.369G>A
ENST00000639318.1:c.382G>A ENSP00000491932.1:p.Gly128Arg
ENST00000639364.1:n.1882G>A
ENST00000639443.1:n.1750G>A
ENST00000639954.1:n.1890G>A
ENST00000640505.1:n.421G>A
ENST00000321612.6:c.2182G>A ENSP00000370737.3:p.Gly728Arg
NM_000170.2:c.2182G>A , LRG_643t1:c.2182G>A NP_000161.2:p.Gly728Arg
NM_000170.3:c.2182G>A MANE Select NP_000161.2:p.Gly728Arg
Search 100 bp 5'
Search 100 bp 3'