Canonical Allele Identifier: CA344726

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56069
• ClinVar RCV Id: RCV000049478
• dbSNP Id: rs386833550
• MyVariant Identifiers: chr9:g.6554700C>T (hg19) ; chr9:g.6554700C>T (hg38)
• PubMed: PMID:12126939 ; PMID:20301531

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554700C>T , CM000671.2:g.6554700C>T	GRCh38
NC_000009.11:g.6554700C>T , CM000671.1:g.6554700C>T	GRCh37
NC_000009.10:g.6544700C>T	NCBI36
NG_016397.1:g.95993G>A , LRG_643:g.95993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2284G>A MANE Select	ENSP00000370737.4:p.Gly762Arg
ENST00000638233.1:n.719G>A
ENST00000638661.1:c.484G>A	ENSP00000491369.1:p.Gly162Arg
ENST00000638694.1:n.471G>A
ENST00000639318.1:c.484G>A	ENSP00000491932.1:p.Gly162Arg
ENST00000639364.1:n.1984G>A
ENST00000639443.1:n.1852G>A
ENST00000639639.1:c.-15G>A	ENSP00000491312.1:n.-15G>A
ENST00000639954.1:n.1992G>A
ENST00000640505.1:n.523G>A
ENST00000321612.6:c.2284G>A	ENSP00000370737.3:p.Gly762Arg
ENST00000467946.1:n.210G>A
NM_000170.2:c.2284G>A , LRG_643t1:c.2284G>A	NP_000161.2:p.Gly762Arg
NM_000170.3:c.2284G>A MANE Select	NP_000161.2:p.Gly762Arg