Canonical Allele Identifier: CA263334
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56059
ClinVar RCV Id: RCV000049468
dbSNP Id: rs386833540

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556250G>A , CM000671.2:g.6556250G>A GRCh38
NC_000009.11:g.6556250G>A , CM000671.1:g.6556250G>A GRCh37
NC_000009.10:g.6546250G>A NCBI36
NG_016397.1:g.94443C>T , LRG_643:g.94443C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2105C>T MANE Select ENSP00000370737.4:p.Thr702Ile
ENST00000638233.1:n.540C>T
ENST00000638661.1:c.305C>T ENSP00000491369.1:p.Thr102Ile
ENST00000638694.1:n.292C>T
ENST00000639318.1:c.305C>T ENSP00000491932.1:p.Thr102Ile
ENST00000639364.1:n.1805C>T
ENST00000639443.1:n.1673C>T
ENST00000639954.1:n.1813C>T
ENST00000640505.1:n.344C>T
ENST00000321612.6:c.2105C>T ENSP00000370737.3:p.Thr702Ile
NM_000170.2:c.2105C>T , LRG_643t1:c.2105C>T NP_000161.2:p.Thr702Ile
NM_000170.3:c.2105C>T MANE Select NP_000161.2:p.Thr702Ile