Canonical Allele Identifier: CA188651594

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1545168
• ClinVar RCV Id: RCV002174603
• dbSNP Id: rs368248411
• gnomAD v4: 9-6558601-C-G
• MyVariant Identifiers: chr9:g.6558601C>G (hg19) ; chr9:g.6558601C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558601C>G , CM000671.2:g.6558601C>G	GRCh38
NC_000009.11:g.6558601C>G , CM000671.1:g.6558601C>G	GRCh37
NC_000009.10:g.6548601C>G	NCBI36
NG_016397.1:g.92092G>C , LRG_643:g.92092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2010G>C MANE Select	ENSP00000370737.4:p.Val670=
ENST00000460457.2:n.170G>C
ENST00000638233.1:n.445G>C
ENST00000638661.1:c.210G>C	ENSP00000491369.1:p.Val70=
ENST00000638694.1:n.197G>C
ENST00000639318.1:c.210G>C	ENSP00000491932.1:p.Val70=
ENST00000639364.1:n.1710G>C
ENST00000639443.1:n.1578G>C
ENST00000639954.1:n.1718G>C
ENST00000640208.1:c.210G>C	ENSP00000491895.1:p.Val70=
ENST00000640505.1:n.249G>C
ENST00000640592.1:n.1893G>C
ENST00000321612.6:c.2010G>C	ENSP00000370737.3:p.Val670=
ENST00000460457.1:n.149G>C
NM_000170.2:c.2010G>C , LRG_643t1:c.2010G>C	NP_000161.2:p.Val670=
NM_000170.3:c.2010G>C MANE Select	NP_000161.2:p.Val670=