Canonical Allele Identifier: CA4980481

Gene: GLDC

Linked Data

• ClinVar Variation Id: 641950
• ClinVar RCV Id: RCV000795312
• dbSNP Id: rs772101467
• ExAC: 9:6565354 C / T
• gnomAD v2: 9-6565354-C-T
• gnomAD v3: 9-6565354-C-T
• gnomAD v4: 9-6565354-C-T
• MyVariant Identifiers: chr9:g.6565354C>T (hg19) ; chr9:g.6565354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565354C>T , CM000671.2:g.6565354C>T	GRCh38
NC_000009.11:g.6565354C>T , CM000671.1:g.6565354C>T	GRCh37
NC_000009.10:g.6555354C>T	NCBI36
NG_016397.1:g.85339G>A , LRG_643:g.85339G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1926G>A MANE Select	ENSP00000370737.4:p.Thr642=
ENST00000460457.2:n.86G>A
ENST00000638233.1:n.361G>A
ENST00000638661.1:c.126G>A	ENSP00000491369.1:p.Thr42=
ENST00000638694.1:n.113G>A
ENST00000639318.1:c.126G>A	ENSP00000491932.1:p.Thr42=
ENST00000639364.1:n.1626G>A
ENST00000639443.1:n.1494G>A
ENST00000639954.1:n.1634G>A
ENST00000640208.1:c.126G>A	ENSP00000491895.1:p.Thr42=
ENST00000640505.1:n.165G>A
ENST00000640592.1:n.1809G>A
ENST00000321612.6:c.1926G>A	ENSP00000370737.3:p.Thr642=
ENST00000460457.1:n.65G>A
NM_000170.2:c.1926G>A , LRG_643t1:c.1926G>A	NP_000161.2:p.Thr642=
NM_000170.3:c.1926G>A MANE Select	NP_000161.2:p.Thr642=