Canonical Allele Identifier: CA372884342

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1487096
• ClinVar RCV Id: RCV002033460
• dbSNP Id: rs1488935367
• gnomAD v2: 9-6565364-C-T
• gnomAD v3: 9-6565364-C-T
• gnomAD v4: 9-6565364-C-T
• MyVariant Identifiers: chr9:g.6565364C>T (hg19) ; chr9:g.6565364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565364C>T , CM000671.2:g.6565364C>T	GRCh38
NC_000009.11:g.6565364C>T , CM000671.1:g.6565364C>T	GRCh37
NC_000009.10:g.6555364C>T	NCBI36
NG_016397.1:g.85329G>A , LRG_643:g.85329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1916G>A MANE Select	ENSP00000370737.4:p.Gly639Glu
ENST00000460457.2:n.76G>A
ENST00000638233.1:n.351G>A
ENST00000638661.1:c.116G>A	ENSP00000491369.1:p.Gly39Glu
ENST00000638694.1:n.103G>A
ENST00000639318.1:c.116G>A	ENSP00000491932.1:p.Gly39Glu
ENST00000639364.1:n.1616G>A
ENST00000639443.1:n.1484G>A
ENST00000639954.1:n.1624G>A
ENST00000640208.1:c.116G>A	ENSP00000491895.1:p.Gly39Glu
ENST00000640505.1:n.155G>A
ENST00000640592.1:n.1799G>A
ENST00000321612.6:c.1916G>A	ENSP00000370737.3:p.Gly639Glu
ENST00000460457.1:n.55G>A
NM_000170.2:c.1916G>A , LRG_643t1:c.1916G>A	NP_000161.2:p.Gly639Glu
NM_000170.3:c.1916G>A MANE Select	NP_000161.2:p.Gly639Glu