Canonical Allele Identifier: CA188667771
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 2174209
ClinVar RCV Id: RCV002585061
dbSNP Id: rs374138776
gnomAD v2: 9-6595117-G-A
gnomAD v3: 9-6595117-G-A
gnomAD v4: 9-6595117-G-A
MyVariant Identifiers: chr9:g.6595117G>A (hg19) chr9:g.6595117G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595117G>A , CM000671.2:g.6595117G>A GRCh38
NC_000009.11:g.6595117G>A , CM000671.1:g.6595117G>A GRCh37
NC_000009.10:g.6585117G>A NCBI36
NG_016397.1:g.55576C>T , LRG_643:g.55576C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1158C>T MANE Select ENSP00000370737.4:p.Ala386=
ENST00000638654.1:c.405C>T ENSP00000491101.1:p.Ala135=
ENST00000639364.1:n.858C>T
ENST00000639443.1:n.726C>T
ENST00000639493.1:n.310C>T
ENST00000639954.1:n.866C>T
ENST00000640592.1:n.1041C>T
ENST00000321612.6:c.1158C>T ENSP00000370737.3:p.Ala386=
ENST00000463305.1:n.242C>T
NM_000170.2:c.1158C>T , LRG_643t1:c.1158C>T NP_000161.2:p.Ala386=
NM_000170.3:c.1158C>T MANE Select NP_000161.2:p.Ala386=
Search 100 bp 5'
Search 100 bp 3'