Canonical Allele Identifier: CA372881882

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2199571
• ClinVar RCV Id: RCV002625001
• dbSNP Id: rs762425284
• gnomAD v3: 9-6558598-A-C
• gnomAD v4: 9-6558598-A-C
• MyVariant Identifiers: chr9:g.6558598A>C (hg19) ; chr9:g.6558598A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558598A>C , CM000671.2:g.6558598A>C	GRCh38
NC_000009.11:g.6558598A>C , CM000671.1:g.6558598A>C	GRCh37
NC_000009.10:g.6548598A>C	NCBI36
NG_016397.1:g.92095T>G , LRG_643:g.92095T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2013T>G MANE Select	ENSP00000370737.4:p.Asp671Glu
ENST00000460457.2:n.173T>G
ENST00000638233.1:n.448T>G
ENST00000638661.1:c.213T>G	ENSP00000491369.1:p.Asp71Glu
ENST00000638694.1:n.200T>G
ENST00000639318.1:c.213T>G	ENSP00000491932.1:p.Asp71Glu
ENST00000639364.1:n.1713T>G
ENST00000639443.1:n.1581T>G
ENST00000639954.1:n.1721T>G
ENST00000640208.1:c.213T>G	ENSP00000491895.1:p.Asp71Glu
ENST00000640505.1:n.252T>G
ENST00000640592.1:n.1896T>G
ENST00000321612.6:c.2013T>G	ENSP00000370737.3:p.Asp671Glu
ENST00000460457.1:n.152T>G
NM_000170.2:c.2013T>G , LRG_643t1:c.2013T>G	NP_000161.2:p.Asp671Glu
NM_000170.3:c.2013T>G MANE Select	NP_000161.2:p.Asp671Glu