Canonical Allele Identifier: CA4980438

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1907734
• ClinVar RCV Id: RCV002581022
• dbSNP Id: rs746744137
• ExAC: 9:6558582 C / T
• gnomAD v2: 9-6558582-C-T
• gnomAD v3: 9-6558582-C-T
• gnomAD v4: 9-6558582-C-T
• MyVariant Identifiers: chr9:g.6558582C>T (hg19) ; chr9:g.6558582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558582C>T , CM000671.2:g.6558582C>T	GRCh38
NC_000009.11:g.6558582C>T , CM000671.1:g.6558582C>T	GRCh37
NC_000009.10:g.6548582C>T	NCBI36
NG_016397.1:g.92111G>A , LRG_643:g.92111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2029G>A MANE Select	ENSP00000370737.4:p.Asp677Asn
ENST00000460457.2:n.189G>A
ENST00000638233.1:n.464G>A
ENST00000638661.1:c.229G>A	ENSP00000491369.1:p.Asp77Asn
ENST00000638694.1:n.216G>A
ENST00000639318.1:c.229G>A	ENSP00000491932.1:p.Asp77Asn
ENST00000639364.1:n.1729G>A
ENST00000639443.1:n.1597G>A
ENST00000639954.1:n.1737G>A
ENST00000640208.1:c.229G>A	ENSP00000491895.1:p.Asp77Asn
ENST00000640505.1:n.268G>A
ENST00000640592.1:n.1912G>A
ENST00000321612.6:c.2029G>A	ENSP00000370737.3:p.Asp677Asn
ENST00000460457.1:n.168G>A
NM_000170.2:c.2029G>A , LRG_643t1:c.2029G>A	NP_000161.2:p.Asp677Asn
NM_000170.3:c.2029G>A MANE Select	NP_000161.2:p.Asp677Asn