Canonical Allele Identifier: CA263308
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56049
ClinVar RCV Id: RCV000049458
dbSNP Id: rs386833530
gnomAD v4: 9-6645324-C-G
MyVariant Identifiers: chr9:g.6645324C>G (hg19) chr9:g.6645324C>G (hg38)
PubMed: PMID:16450403
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6645324C>G , CM000671.2:g.6645324C>G GRCh38
NC_000009.11:g.6645324C>G , CM000671.1:g.6645324C>G GRCh37
NC_000009.10:g.6635324C>G NCBI36
NG_016397.1:g.5369G>C , LRG_643:g.5369G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.176G>C MANE Select ENSP00000370737.4:p.Arg59Thr
ENST00000321612.6:c.176G>C ENSP00000370737.3:p.Arg59Thr
NM_000170.2:c.176G>C , LRG_643t1:c.176G>C NP_000161.2:p.Arg59Thr
XM_024447726.1:c.335C>G XP_024303494.1:p.Ser112Cys
NM_000170.3:c.176G>C MANE Select NP_000161.2:p.Arg59Thr
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