Canonical Allele Identifier: CA263308

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56049
• ClinVar RCV Id: RCV000049458 ; RCV004018964
• dbSNP Id: rs386833530
• gnomAD v4: 9-6645324-C-G
• MyVariant Identifiers: chr9:g.6645324C>G (hg19) ; chr9:g.6645324C>G (hg38)
• PubMed: PMID:16450403

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6645324C>G , CM000671.2:g.6645324C>G	GRCh38
NC_000009.11:g.6645324C>G , CM000671.1:g.6645324C>G	GRCh37
NC_000009.10:g.6635324C>G	NCBI36
NG_016397.1:g.5369G>C , LRG_643:g.5369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.176G>C MANE Select	ENSP00000370737.4:p.Arg59Thr
ENST00000321612.6:c.176G>C	ENSP00000370737.3:p.Arg59Thr
NM_000170.2:c.176G>C , LRG_643t1:c.176G>C	NP_000161.2:p.Arg59Thr
XM_024447726.1:c.335C>G	XP_024303494.1:p.Ser112Cys
NM_000170.3:c.176G>C MANE Select	NP_000161.2:p.Arg59Thr