Canonical Allele Identifier: CA4980374

Gene: GLDC

Linked Data

• ClinVar Variation Id: 367183
• ClinVar RCV Id: RCV002523797
• dbSNP Id: rs145018304
• ExAC: 9:6556208 A / T
• gnomAD v2: 9-6556208-A-T
• gnomAD v3: 9-6556208-A-T
• gnomAD v4: 9-6556208-A-T
• MyVariant Identifiers: chr9:g.6556208A>T (hg19) ; chr9:g.6556208A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556208A>T , CM000671.2:g.6556208A>T	GRCh38
NC_000009.11:g.6556208A>T , CM000671.1:g.6556208A>T	GRCh37
NC_000009.10:g.6546208A>T	NCBI36
NG_016397.1:g.94485T>A , LRG_643:g.94485T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2147T>A MANE Select	ENSP00000370737.4:p.Leu716His
ENST00000638233.1:n.582T>A
ENST00000638661.1:c.347T>A	ENSP00000491369.1:p.Leu116His
ENST00000638694.1:n.334T>A
ENST00000639318.1:c.347T>A	ENSP00000491932.1:p.Leu116His
ENST00000639364.1:n.1847T>A
ENST00000639443.1:n.1715T>A
ENST00000639954.1:n.1855T>A
ENST00000640505.1:n.386T>A
ENST00000321612.6:c.2147T>A	ENSP00000370737.3:p.Leu716His
NM_000170.2:c.2147T>A , LRG_643t1:c.2147T>A	NP_000161.2:p.Leu716His
NM_000170.3:c.2147T>A MANE Select	NP_000161.2:p.Leu716His