Canonical Allele Identifier: CA263294
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56043
ClinVar RCV Id: RCV000049452 RCV003407429
dbSNP Id: rs386833524
ExAC: 9:6592870 C / T
gnomAD v2: 9-6592870-C-T
gnomAD v3: 9-6592870-C-T
gnomAD v4: 9-6592870-C-T
MyVariant Identifiers: chr9:g.6592870C>T (hg19) chr9:g.6592870C>T (hg38)
PubMed: PMID:16601880
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6592870C>T , CM000671.2:g.6592870C>T GRCh38
NC_000009.11:g.6592870C>T , CM000671.1:g.6592870C>T GRCh37
NC_000009.10:g.6582870C>T NCBI36
NG_016397.1:g.57823G>A , LRG_643:g.57823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1382G>A MANE Select ENSP00000370737.4:p.Arg461Gln
ENST00000639364.1:n.1082G>A
ENST00000639443.1:n.950G>A
ENST00000639493.1:n.534G>A
ENST00000639954.1:n.1090G>A
ENST00000640592.1:n.1265G>A
ENST00000640703.1:n.225G>A
ENST00000321612.6:c.1382G>A ENSP00000370737.3:p.Arg461Gln
ENST00000463305.1:n.466G>A
NM_000170.2:c.1382G>A , LRG_643t1:c.1382G>A NP_000161.2:p.Arg461Gln
NM_000170.3:c.1382G>A MANE Select NP_000161.2:p.Arg461Gln
Search 100 bp 5'
Search 100 bp 3'