Canonical Allele Identifier: CA263398

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56087
• ClinVar RCV Id: RCV000049496 ; RCV003230385
• dbSNP Id: rs386833568
• gnomAD v2: 9-6536059-C-T
• gnomAD v4: 9-6536059-C-T
• MyVariant Identifiers: chr9:g.6536059C>T (hg19) ; chr9:g.6536059C>T (hg38)
• PubMed: PMID:16601880

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6536059C>T , CM000671.2:g.6536059C>T	GRCh38
NC_000009.11:g.6536059C>T , CM000671.1:g.6536059C>T	GRCh37
NC_000009.10:g.6526059C>T	NCBI36
NG_016397.1:g.114634G>A , LRG_643:g.114634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2838+5G>A MANE Select	ENSP00000370737.4:n.2838+5G>A
ENST00000638233.1:n.1273+5G>A
ENST00000638661.1:c.1038+5G>A	ENSP00000491369.1:n.1038+5G>A
ENST00000638694.1:n.1025+5G>A
ENST00000639318.1:c.942+5G>A	ENSP00000491932.1:n.942+5G>A
ENST00000639364.1:n.2538+5G>A
ENST00000639443.1:n.2406+5G>A
ENST00000639461.1:n.1939+5G>A
ENST00000639639.1:c.540+5G>A	ENSP00000491312.1:n.540+5G>A
ENST00000639954.1:n.2546+5G>A
ENST00000640505.1:n.1077+5G>A
ENST00000321612.6:c.2838+5G>A	ENSP00000370737.3:n.2838+5G>A
ENST00000477960.1:n.307G>A
NM_000170.2:c.2838+5G>A , LRG_643t1:c.2838+5G>A	NP_000161.2:n.2838+5G>A
NM_000170.3:c.2838+5G>A MANE Select	NP_000161.2:n.2838+5G>A