Canonical Allele Identifier: CA341167

Gene: GLDC

Linked Data

• ClinVar Variation Id: 11985
• ClinVar RCV Id: RCV000012765 ; RCV000449527 ; RCV003398490 ; RCV001582476
• dbSNP Id: rs121964976
• ExAC: 9:6589230 C / G
• gnomAD v2: 9-6589230-C-G
• gnomAD v3: 9-6589230-C-G
• gnomAD v4: 9-6589230-C-G
• MyVariant Identifiers: chr9:g.6589230C>G (hg19) ; chr9:g.6589230C>G (hg38)
• PubMed: PMID:10873393 ; PMID:11286506 ; PMID:20301531

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6589230C>G , CM000671.2:g.6589230C>G	GRCh38
NC_000009.11:g.6589230C>G , CM000671.1:g.6589230C>G	GRCh37
NC_000009.10:g.6579230C>G	NCBI36
NG_016397.1:g.61463G>C , LRG_643:g.61463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1545G>C MANE Select	ENSP00000370737.4:p.Arg515Ser
ENST00000639364.1:n.1245G>C
ENST00000639443.1:n.1113G>C
ENST00000639954.1:n.1253G>C
ENST00000640592.1:n.1428G>C
ENST00000321612.6:c.1545G>C	ENSP00000370737.3:p.Arg515Ser
ENST00000463305.1:n.629G>C
NM_000170.2:c.1545G>C , LRG_643t1:c.1545G>C	NP_000161.2:p.Arg515Ser
NM_000170.3:c.1545G>C MANE Select	NP_000161.2:p.Arg515Ser