Canonical Allele Identifier: CA4980444

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1063838
• ClinVar RCV Id: RCV001373719
• dbSNP Id: rs762425284
• ExAC: 9:6558598 A / T
• gnomAD v2: 9-6558598-A-T
• gnomAD v3: 9-6558598-A-T
• gnomAD v4: 9-6558598-A-T
• MyVariant Identifiers: chr9:g.6558598A>T (hg19) ; chr9:g.6558598A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558598A>T , CM000671.2:g.6558598A>T	GRCh38
NC_000009.11:g.6558598A>T , CM000671.1:g.6558598A>T	GRCh37
NC_000009.10:g.6548598A>T	NCBI36
NG_016397.1:g.92095T>A , LRG_643:g.92095T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2013T>A MANE Select	ENSP00000370737.4:p.Asp671Glu
ENST00000460457.2:n.173T>A
ENST00000638233.1:n.448T>A
ENST00000638661.1:c.213T>A	ENSP00000491369.1:p.Asp71Glu
ENST00000638694.1:n.200T>A
ENST00000639318.1:c.213T>A	ENSP00000491932.1:p.Asp71Glu
ENST00000639364.1:n.1713T>A
ENST00000639443.1:n.1581T>A
ENST00000639954.1:n.1721T>A
ENST00000640208.1:c.213T>A	ENSP00000491895.1:p.Asp71Glu
ENST00000640505.1:n.252T>A
ENST00000640592.1:n.1896T>A
ENST00000321612.6:c.2013T>A	ENSP00000370737.3:p.Asp671Glu
ENST00000460457.1:n.152T>A
NM_000170.2:c.2013T>A , LRG_643t1:c.2013T>A	NP_000161.2:p.Asp671Glu
NM_000170.3:c.2013T>A MANE Select	NP_000161.2:p.Asp671Glu