Canonical Allele Identifier: CA188667661
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 2043126
ClinVar RCV Id: RCV002908452
dbSNP Id: rs940157961
gnomAD v2: 9-6595021-C-G
gnomAD v4: 9-6595021-C-G
MyVariant Identifiers: chr9:g.6595021C>G (hg19) chr9:g.6595021C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595021C>G , CM000671.2:g.6595021C>G GRCh38
NC_000009.11:g.6595021C>G , CM000671.1:g.6595021C>G GRCh37
NC_000009.10:g.6585021C>G NCBI36
NG_016397.1:g.55672G>C , LRG_643:g.55672G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1254G>C MANE Select ENSP00000370737.4:p.Leu418Phe
ENST00000639364.1:n.954G>C
ENST00000639443.1:n.822G>C
ENST00000639493.1:n.406G>C
ENST00000639954.1:n.962G>C
ENST00000640592.1:n.1137G>C
ENST00000321612.6:c.1254G>C ENSP00000370737.3:p.Leu418Phe
ENST00000463305.1:n.338G>C
NM_000170.2:c.1254G>C , LRG_643t1:c.1254G>C NP_000161.2:p.Leu418Phe
NM_000170.3:c.1254G>C MANE Select NP_000161.2:p.Leu418Phe
Search 100 bp 5'
Search 100 bp 3'