Canonical Allele Identifier: CA188650942

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1609702
• ClinVar RCV Id: RCV002155308
• dbSNP Id: rs1055782169
• gnomAD v2: 9-6556204-G-A
• gnomAD v3: 9-6556204-G-A
• gnomAD v4: 9-6556204-G-A
• MyVariant Identifiers: chr9:g.6556204G>A (hg19) ; chr9:g.6556204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556204G>A , CM000671.2:g.6556204G>A	GRCh38
NC_000009.11:g.6556204G>A , CM000671.1:g.6556204G>A	GRCh37
NC_000009.10:g.6546204G>A	NCBI36
NG_016397.1:g.94489C>T , LRG_643:g.94489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2151C>T MANE Select	ENSP00000370737.4:p.Ile717=
ENST00000638233.1:n.586C>T
ENST00000638661.1:c.351C>T	ENSP00000491369.1:p.Ile117=
ENST00000638694.1:n.338C>T
ENST00000639318.1:c.351C>T	ENSP00000491932.1:p.Ile117=
ENST00000639364.1:n.1851C>T
ENST00000639443.1:n.1719C>T
ENST00000639954.1:n.1859C>T
ENST00000640505.1:n.390C>T
ENST00000321612.6:c.2151C>T	ENSP00000370737.3:p.Ile717=
NM_000170.2:c.2151C>T , LRG_643t1:c.2151C>T	NP_000161.2:p.Ile717=
NM_000170.3:c.2151C>T MANE Select	NP_000161.2:p.Ile717=