Canonical Allele Identifier: CA4980378

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1129552
• ClinVar RCV Id: RCV001462760
• dbSNP Id: rs763944767
• ExAC: 9:6556216 C / T
• gnomAD v2: 9-6556216-C-T
• gnomAD v3: 9-6556216-C-T
• gnomAD v4: 9-6556216-C-T
• MyVariant Identifiers: chr9:g.6556216C>T (hg19) ; chr9:g.6556216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556216C>T , CM000671.2:g.6556216C>T	GRCh38
NC_000009.11:g.6556216C>T , CM000671.1:g.6556216C>T	GRCh37
NC_000009.10:g.6546216C>T	NCBI36
NG_016397.1:g.94477G>A , LRG_643:g.94477G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2139G>A MANE Select	ENSP00000370737.4:p.Val713=
ENST00000638233.1:n.574G>A
ENST00000638661.1:c.339G>A	ENSP00000491369.1:p.Val113=
ENST00000638694.1:n.326G>A
ENST00000639318.1:c.339G>A	ENSP00000491932.1:p.Val113=
ENST00000639364.1:n.1839G>A
ENST00000639443.1:n.1707G>A
ENST00000639954.1:n.1847G>A
ENST00000640505.1:n.378G>A
ENST00000321612.6:c.2139G>A	ENSP00000370737.3:p.Val713=
NM_000170.2:c.2139G>A , LRG_643t1:c.2139G>A	NP_000161.2:p.Val713=
NM_000170.3:c.2139G>A MANE Select	NP_000161.2:p.Val713=