Canonical Allele Identifier: CA256167
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 11988
ClinVar RCV Id: RCV000012768
dbSNP Id: rs121964978
gnomAD v4: 9-6645498-A-G
MyVariant Identifiers: chr9:g.6645498A>G (hg19) chr9:g.6645498A>G (hg38)
PubMed: PMID:15864413
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6645498A>G , CM000671.2:g.6645498A>G GRCh38
NC_000009.11:g.6645498A>G , CM000671.1:g.6645498A>G GRCh37
NC_000009.10:g.6635498A>G NCBI36
NG_016397.1:g.5195T>C , LRG_643:g.5195T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2T>C MANE Select ENSP00000370737.4:p.Met1Thr
ENST00000321612.6:c.2T>C ENSP00000370737.3:p.Met1Thr
NM_000170.2:c.2T>C , LRG_643t1:c.2T>C NP_000161.2:p.Met1Thr
XM_024447726.1:c.509A>G XP_024303494.1:p.His170Arg
NM_000170.3:c.2T>C MANE Select NP_000161.2:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'