Canonical Allele Identifier: CA263311
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56050
ClinVar RCV Id: RCV000049459
dbSNP Id: rs386833531
ExAC: 9:6587205 G / A
gnomAD v2: 9-6587205-G-A
gnomAD v4: 9-6587205-G-A
MyVariant Identifiers: chr9:g.6587205G>A (hg19) chr9:g.6587205G>A (hg38)
PubMed: PMID:16450403
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6587205G>A , CM000671.2:g.6587205G>A GRCh38
NC_000009.11:g.6587205G>A , CM000671.1:g.6587205G>A GRCh37
NC_000009.10:g.6577205G>A NCBI36
NG_016397.1:g.63488C>T , LRG_643:g.63488C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1786C>T MANE Select ENSP00000370737.4:p.Arg596Ter
ENST00000639364.1:n.1486C>T
ENST00000639443.1:n.1354C>T
ENST00000639954.1:n.1494C>T
ENST00000640592.1:n.1669C>T
ENST00000321612.6:c.1786C>T ENSP00000370737.3:p.Arg596Ter
NM_000170.2:c.1786C>T , LRG_643t1:c.1786C>T NP_000161.2:p.Arg596Ter
NM_000170.3:c.1786C>T MANE Select NP_000161.2:p.Arg596Ter
Search 100 bp 5'
Search 100 bp 3'