Canonical Allele Identifier: CA188650936
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 873439
ClinVar RCV Id: RCV001095655
dbSNP Id: rs779434645
gnomAD v2: 9-6556188-G-A
gnomAD v4: 9-6556188-G-A
COSMIC: COSM6385171
MyVariant Identifiers: chr9:g.6556188G>A (hg19) chr9:g.6556188G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556188G>A , CM000671.2:g.6556188G>A GRCh38
NC_000009.11:g.6556188G>A , CM000671.1:g.6556188G>A GRCh37
NC_000009.10:g.6546188G>A NCBI36
NG_016397.1:g.94505C>T , LRG_643:g.94505C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2167C>T MANE Select ENSP00000370737.4:p.Gln723Ter
ENST00000638233.1:n.602C>T
ENST00000638661.1:c.367C>T ENSP00000491369.1:p.Gln123Ter
ENST00000638694.1:n.354C>T
ENST00000639318.1:c.367C>T ENSP00000491932.1:p.Gln123Ter
ENST00000639364.1:n.1867C>T
ENST00000639443.1:n.1735C>T
ENST00000639954.1:n.1875C>T
ENST00000640505.1:n.406C>T
ENST00000321612.6:c.2167C>T ENSP00000370737.3:p.Gln723Ter
NM_000170.2:c.2167C>T , LRG_643t1:c.2167C>T NP_000161.2:p.Gln723Ter
NM_000170.3:c.2167C>T MANE Select NP_000161.2:p.Gln723Ter
Search 100 bp 5'
Search 100 bp 3'