Canonical Allele Identifier: CA263298
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56045
ClinVar RCV Id: RCV000049454
dbSNP Id: rs386833526
gnomAD v4: 9-6592180-T-TC
MyVariant Identifiers: chr9:g.6592181dupC (hg19) chr9:g.6592180_6592181insC (hg19) chr9:g.6592181dupC (hg38) chr9:g.6592180_6592181insC (hg38)
PubMed: PMID:16450403
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6592182dup , CM000671.2:g.6592182dup GRCh38
NC_000009.11:g.6592182dup , CM000671.1:g.6592182dup GRCh37
NC_000009.10:g.6582182dup NCBI36
NG_016397.1:g.58512dup , LRG_643:g.58512dup

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1444dup MANE Select ENSP00000370737.4:p.Asp482GlyfsTer10
ENST00000639364.1:n.1144dup
ENST00000639443.1:n.1012dup
ENST00000639954.1:n.1152dup
ENST00000640592.1:n.1327dup
ENST00000640703.1:n.287dup
ENST00000321612.6:c.1444dup ENSP00000370737.3:p.Asp482GlyfsTer10
ENST00000463305.1:n.528dup
NM_000170.2:c.1444dup , LRG_643t1:c.1444dup NP_000161.2:p.Asp482GlyfsTer10
NM_000170.3:c.1444dup MANE Select NP_000161.2:p.Asp482GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'