Canonical Allele Identifier: CA4980361
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1054737
ClinVar RCV Id: RCV001363298
dbSNP Id: rs763854673
ExAC: 9:6556163 A / G
gnomAD v2: 9-6556163-A-G
gnomAD v4: 9-6556163-A-G
MyVariant Identifiers: chr9:g.6556163A>G (hg19) chr9:g.6556163A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556163A>G , CM000671.2:g.6556163A>G GRCh38
NC_000009.11:g.6556163A>G , CM000671.1:g.6556163A>G GRCh37
NC_000009.10:g.6546163A>G NCBI36
NG_016397.1:g.94530T>C , LRG_643:g.94530T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2192T>C MANE Select ENSP00000370737.4:p.Met731Thr
ENST00000638233.1:n.627T>C
ENST00000638661.1:c.392T>C ENSP00000491369.1:p.Met131Thr
ENST00000638694.1:n.379T>C
ENST00000639318.1:c.392T>C ENSP00000491932.1:p.Met131Thr
ENST00000639364.1:n.1892T>C
ENST00000639443.1:n.1760T>C
ENST00000639954.1:n.1900T>C
ENST00000640505.1:n.431T>C
ENST00000321612.6:c.2192T>C ENSP00000370737.3:p.Met731Thr
NM_000170.2:c.2192T>C , LRG_643t1:c.2192T>C NP_000161.2:p.Met731Thr
NM_000170.3:c.2192T>C MANE Select NP_000161.2:p.Met731Thr
Search 100 bp 5'
Search 100 bp 3'