Canonical Allele Identifier: CA4980363
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1140557
ClinVar RCV Id: RCV001477664 RCV003399250
dbSNP Id: rs192045547
ExAC: 9:6556174 G / A
gnomAD v2: 9-6556174-G-A
gnomAD v3: 9-6556174-G-A
gnomAD v4: 9-6556174-G-A
MyVariant Identifiers: chr9:g.6556174G>A (hg19) chr9:g.6556174G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556174G>A , CM000671.2:g.6556174G>A GRCh38
NC_000009.11:g.6556174G>A , CM000671.1:g.6556174G>A GRCh37
NC_000009.10:g.6546174G>A NCBI36
NG_016397.1:g.94519C>T , LRG_643:g.94519C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2181C>T MANE Select ENSP00000370737.4:p.Asp727=
ENST00000638233.1:n.616C>T
ENST00000638661.1:c.381C>T ENSP00000491369.1:p.Asp127=
ENST00000638694.1:n.368C>T
ENST00000639318.1:c.381C>T ENSP00000491932.1:p.Asp127=
ENST00000639364.1:n.1881C>T
ENST00000639443.1:n.1749C>T
ENST00000639954.1:n.1889C>T
ENST00000640505.1:n.420C>T
ENST00000321612.6:c.2181C>T ENSP00000370737.3:p.Asp727=
NM_000170.2:c.2181C>T , LRG_643t1:c.2181C>T NP_000161.2:p.Asp727=
NM_000170.3:c.2181C>T MANE Select NP_000161.2:p.Asp727=
Search 100 bp 5'
Search 100 bp 3'