Canonical Allele Identifier: CA263362

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56073
• ClinVar RCV Id: RCV000049482 ; RCV000734579 ; RCV003415814
• dbSNP Id: rs386833554
• ExAC: 9:6553510 C / T
• gnomAD v2: 9-6553510-C-T
• gnomAD v4: 9-6553510-C-T
• MyVariant Identifiers: chr9:g.6553510C>T (hg19) ; chr9:g.6553510C>T (hg38)
• PubMed: PMID:16601880

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6553510C>T , CM000671.2:g.6553510C>T	GRCh38
NC_000009.11:g.6553510C>T , CM000671.1:g.6553510C>T	GRCh37
NC_000009.10:g.6543510C>T	NCBI36
NG_016397.1:g.97183G>A , LRG_643:g.97183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2316-1G>A MANE Select	ENSP00000370737.4:n.2316-1G>A
ENST00000638233.1:n.751-1G>A
ENST00000638661.1:c.516-1G>A	ENSP00000491369.1:n.516-1G>A
ENST00000638694.1:n.503-1G>A
ENST00000639318.1:c.516-1G>A	ENSP00000491932.1:n.516-1G>A
ENST00000639364.1:n.2016-1G>A
ENST00000639443.1:n.1884-1G>A
ENST00000639639.1:c.18-1G>A	ENSP00000491312.1:n.18-1G>A
ENST00000639954.1:n.2024-1G>A
ENST00000640505.1:n.555-1G>A
ENST00000321612.6:c.2316-1G>A	ENSP00000370737.3:n.2316-1G>A
ENST00000467946.1:n.242-1G>A
NM_000170.2:c.2316-1G>A , LRG_643t1:c.2316-1G>A	NP_000161.2:n.2316-1G>A
NM_000170.3:c.2316-1G>A MANE Select	NP_000161.2:n.2316-1G>A