Canonical Allele Identifier: CA4980368

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1648799
• ClinVar RCV Id: RCV002141372
• dbSNP Id: rs748569405
• ExAC: 9:6556192 T / C
• gnomAD v2: 9-6556192-T-C
• gnomAD v4: 9-6556192-T-C
• MyVariant Identifiers: chr9:g.6556192T>C (hg19) ; chr9:g.6556192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556192T>C , CM000671.2:g.6556192T>C	GRCh38
NC_000009.11:g.6556192T>C , CM000671.1:g.6556192T>C	GRCh37
NC_000009.10:g.6546192T>C	NCBI36
NG_016397.1:g.94501A>G , LRG_643:g.94501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2163A>G MANE Select	ENSP00000370737.4:p.Gly721=
ENST00000638233.1:n.598A>G
ENST00000638661.1:c.363A>G	ENSP00000491369.1:p.Gly121=
ENST00000638694.1:n.350A>G
ENST00000639318.1:c.363A>G	ENSP00000491932.1:p.Gly121=
ENST00000639364.1:n.1863A>G
ENST00000639443.1:n.1731A>G
ENST00000639954.1:n.1871A>G
ENST00000640505.1:n.402A>G
ENST00000321612.6:c.2163A>G	ENSP00000370737.3:p.Gly721=
NM_000170.2:c.2163A>G , LRG_643t1:c.2163A>G	NP_000161.2:p.Gly721=
NM_000170.3:c.2163A>G MANE Select	NP_000161.2:p.Gly721=