Canonical Allele Identifier: CA263331

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56058
• ClinVar RCV Id: RCV000049467
• dbSNP Id: rs386833539
• gnomAD v4: 9-6556257-G-C
• MyVariant Identifiers: chr9:g.6556257G>C (hg19) ; chr9:g.6556257G>C (hg38)
• PubMed: PMID:12126939

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556257G>C , CM000671.2:g.6556257G>C	GRCh38
NC_000009.11:g.6556257G>C , CM000671.1:g.6556257G>C	GRCh37
NC_000009.10:g.6546257G>C	NCBI36
NG_016397.1:g.94436C>G , LRG_643:g.94436C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2098C>G MANE Select	ENSP00000370737.4:p.Pro700Ala
ENST00000638233.1:n.533C>G
ENST00000638661.1:c.298C>G	ENSP00000491369.1:p.Pro100Ala
ENST00000638694.1:n.285C>G
ENST00000639318.1:c.298C>G	ENSP00000491932.1:p.Pro100Ala
ENST00000639364.1:n.1798C>G
ENST00000639443.1:n.1666C>G
ENST00000639954.1:n.1806C>G
ENST00000640505.1:n.337C>G
ENST00000321612.6:c.2098C>G	ENSP00000370737.3:p.Pro700Ala
NM_000170.2:c.2098C>G , LRG_643t1:c.2098C>G	NP_000161.2:p.Pro700Ala
NM_000170.3:c.2098C>G MANE Select	NP_000161.2:p.Pro700Ala