Canonical Allele Identifier: CA463584687

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462869
• ClinVar RCV Id: RCV000529827 ; RCV002265791
• dbSNP Id: rs765661419
• gnomAD v2: 9-6554674-G-T
• gnomAD v4: 9-6554674-G-T
• MyVariant Identifiers: chr9:g.6554674G>T (hg19) ; chr9:g.6554674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554674G>T , CM000671.2:g.6554674G>T	GRCh38
NC_000009.11:g.6554674G>T , CM000671.1:g.6554674G>T	GRCh37
NC_000009.10:g.6544674G>T	NCBI36
NG_016397.1:g.96019C>A , LRG_643:g.96019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2310C>A MANE Select	ENSP00000370737.4:p.Ile770=
ENST00000638233.1:n.745C>A
ENST00000638661.1:c.510C>A	ENSP00000491369.1:p.Ile170=
ENST00000638694.1:n.497C>A
ENST00000639318.1:c.510C>A	ENSP00000491932.1:p.Ile170=
ENST00000639364.1:n.2010C>A
ENST00000639443.1:n.1878C>A
ENST00000639639.1:c.12C>A	ENSP00000491312.1:p.Ile4=
ENST00000639954.1:n.2018C>A
ENST00000640505.1:n.549C>A
ENST00000321612.6:c.2310C>A	ENSP00000370737.3:p.Ile770=
ENST00000467946.1:n.236C>A
NM_000170.2:c.2310C>A , LRG_643t1:c.2310C>A	NP_000161.2:p.Ile770=
NM_000170.3:c.2310C>A MANE Select	NP_000161.2:p.Ile770=