Canonical Allele Identifier: CA263445
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56106
ClinVar RCV Id: RCV000049515
dbSNP Id: rs386833589
gnomAD v2: 9-6605145-C-G
gnomAD v3: 9-6605145-C-G
gnomAD v4: 9-6605145-C-G
MyVariant Identifiers: chr9:g.6605145C>G (hg19) chr9:g.6605145C>G (hg38)
PubMed: PMID:12126939
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6605145C>G , CM000671.2:g.6605145C>G GRCh38
NC_000009.11:g.6605145C>G , CM000671.1:g.6605145C>G GRCh37
NC_000009.10:g.6595145C>G NCBI36
NG_016397.1:g.45548G>C , LRG_643:g.45548G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.847G>C MANE Select ENSP00000370737.4:p.Ala283Pro
ENST00000638654.1:c.94G>C ENSP00000491101.1:p.Ala32Pro
ENST00000639364.1:n.547G>C
ENST00000639443.1:n.415G>C
ENST00000639954.1:n.555G>C
ENST00000640592.1:n.730G>C
ENST00000321612.6:c.847G>C ENSP00000370737.3:p.Ala283Pro
ENST00000463305.1:n.128G>C
NM_000170.2:c.847G>C , LRG_643t1:c.847G>C NP_000161.2:p.Ala283Pro
NM_000170.3:c.847G>C MANE Select NP_000161.2:p.Ala283Pro
Search 100 bp 5'
Search 100 bp 3'