Canonical Allele Identifier: CA263429
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56100
ClinVar RCV Id: RCV000049509
dbSNP Id: rs386833582
gnomAD v2: 9-6610267-G-T
MyVariant Identifiers: chr9:g.6610267G>T (hg19) chr9:g.6610267G>T (hg38)
PubMed: PMID:16601880
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6610267G>T , CM000671.2:g.6610267G>T GRCh38
NC_000009.11:g.6610267G>T , CM000671.1:g.6610267G>T GRCh37
NC_000009.10:g.6600267G>T NCBI36
NG_016397.1:g.40426C>A , LRG_643:g.40426C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.560C>A MANE Select ENSP00000370737.4:p.Thr187Lys
ENST00000639020.1:c.155C>A ENSP00000491392.1:p.Thr52Lys
ENST00000639364.1:n.260C>A
ENST00000639840.1:c.266C>A ENSP00000491161.1:p.Thr89Lys
ENST00000639954.1:n.268C>A
ENST00000640592.1:n.443C>A
ENST00000321612.6:c.560C>A ENSP00000370737.3:p.Thr187Lys
NM_000170.2:c.560C>A , LRG_643t1:c.560C>A NP_000161.2:p.Thr187Lys
NM_000170.3:c.560C>A MANE Select NP_000161.2:p.Thr187Lys
Search 100 bp 5'
Search 100 bp 3'