Canonical Allele Identifier: CA4980430

Gene: GLDC

Linked Data

• ClinVar Variation Id: 813467
• ClinVar RCV Id: RCV001004546
• dbSNP Id: rs765906340
• ExAC: 9:6558558 C / T
• gnomAD v2: 9-6558558-C-T
• gnomAD v4: 9-6558558-C-T
• MyVariant Identifiers: chr9:g.6558558C>T (hg19) ; chr9:g.6558558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558558C>T , CM000671.2:g.6558558C>T	GRCh38
NC_000009.11:g.6558558C>T , CM000671.1:g.6558558C>T	GRCh37
NC_000009.10:g.6548558C>T	NCBI36
NG_016397.1:g.92135G>A , LRG_643:g.92135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+1G>A MANE Select	ENSP00000370737.4:n.2052+1G>A
ENST00000460457.2:n.212+1G>A
ENST00000638233.1:n.487+1G>A
ENST00000638661.1:c.252+1G>A	ENSP00000491369.1:n.252+1G>A
ENST00000638694.1:n.239+1G>A
ENST00000639318.1:c.252+1G>A	ENSP00000491932.1:n.252+1G>A
ENST00000639364.1:n.1752+1G>A
ENST00000639443.1:n.1620+1G>A
ENST00000639954.1:n.1760+1G>A
ENST00000640208.1:c.253G>A	ENSP00000491895.1:p.Val85Ile
ENST00000640505.1:n.291+1G>A
ENST00000640592.1:n.1936G>A
ENST00000321612.6:c.2052+1G>A	ENSP00000370737.3:n.2052+1G>A
ENST00000460457.1:n.192G>A
NM_000170.2:c.2052+1G>A , LRG_643t1:c.2052+1G>A	NP_000161.2:n.2052+1G>A
NM_000170.3:c.2052+1G>A MANE Select	NP_000161.2:n.2052+1G>A