Canonical Allele Identifier: CA4980441

Gene: GLDC

Linked Data

• ClinVar Variation Id: 646176
• ClinVar RCV Id: RCV000800409
• dbSNP Id: rs749513146
• ExAC: 9:6558587 T / G
• gnomAD v2: 9-6558587-T-G
• gnomAD v3: 9-6558587-T-G
• gnomAD v4: 9-6558587-T-G
• MyVariant Identifiers: chr9:g.6558587T>G (hg19) ; chr9:g.6558587T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558587T>G , CM000671.2:g.6558587T>G	GRCh38
NC_000009.11:g.6558587T>G , CM000671.1:g.6558587T>G	GRCh37
NC_000009.10:g.6548587T>G	NCBI36
NG_016397.1:g.92106A>C , LRG_643:g.92106A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2024A>C MANE Select	ENSP00000370737.4:p.Asn675Thr
ENST00000460457.2:n.184A>C
ENST00000638233.1:n.459A>C
ENST00000638661.1:c.224A>C	ENSP00000491369.1:p.Asn75Thr
ENST00000638694.1:n.211A>C
ENST00000639318.1:c.224A>C	ENSP00000491932.1:p.Asn75Thr
ENST00000639364.1:n.1724A>C
ENST00000639443.1:n.1592A>C
ENST00000639954.1:n.1732A>C
ENST00000640208.1:c.224A>C	ENSP00000491895.1:p.Asn75Thr
ENST00000640505.1:n.263A>C
ENST00000640592.1:n.1907A>C
ENST00000321612.6:c.2024A>C	ENSP00000370737.3:p.Asn675Thr
ENST00000460457.1:n.163A>C
NM_000170.2:c.2024A>C , LRG_643t1:c.2024A>C	NP_000161.2:p.Asn675Thr
NM_000170.3:c.2024A>C MANE Select	NP_000161.2:p.Asn675Thr