Canonical Allele Identifier: CA4981296

Gene: GLDC

Linked Data

• ClinVar Variation Id: 367208
• ClinVar RCV Id: RCV000359890 ; RCV000609377 ; RCV001535403
• dbSNP Id: rs535143891
• ExAC: 9:6645448 C / A
• gnomAD v2: 9-6645448-C-A
• gnomAD v3: 9-6645448-C-A
• gnomAD v4: 9-6645448-C-A
• COSMIC: COSM4163948
• MyVariant Identifiers: chr9:g.6645448C>A (hg19) ; chr9:g.6645448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6645448C>A , CM000671.2:g.6645448C>A	GRCh38
NC_000009.11:g.6645448C>A , CM000671.1:g.6645448C>A	GRCh37
NC_000009.10:g.6635448C>A	NCBI36
NG_016397.1:g.5245G>T , LRG_643:g.5245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.52G>T MANE Select	ENSP00000370737.4:p.Gly18Cys
ENST00000321612.6:c.52G>T	ENSP00000370737.3:p.Gly18Cys
NM_000170.2:c.52G>T , LRG_643t1:c.52G>T	NP_000161.2:p.Gly18Cys
XM_024447726.1:c.459C>A	XP_024303494.1:p.Ala153=
NM_000170.3:c.52G>T MANE Select	NP_000161.2:p.Gly18Cys