Canonical Allele Identifier: CA341165
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 11982
ClinVar RCV Id: RCV000012762
dbSNP Id: rs121964974
gnomAD v2: 9-6588417-C-A
gnomAD v3: 9-6588417-C-A
gnomAD v4: 9-6588417-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6588417C>A , CM000671.2:g.6588417C>A GRCh38
NC_000009.11:g.6588417C>A , CM000671.1:g.6588417C>A GRCh37
NC_000009.10:g.6578417C>A NCBI36
NG_016397.1:g.62276G>T , LRG_643:g.62276G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1691G>T MANE Select ENSP00000370737.4:p.Ser564Ile
ENST00000639364.1:n.1391G>T
ENST00000639443.1:n.1259G>T
ENST00000639954.1:n.1399G>T
ENST00000640592.1:n.1574G>T
ENST00000321612.6:c.1691G>T ENSP00000370737.3:p.Ser564Ile
NM_000170.2:c.1691G>T , LRG_643t1:c.1691G>T NP_000161.2:p.Ser564Ile
NM_000170.3:c.1691G>T MANE Select NP_000161.2:p.Ser564Ile