Canonical Allele Identifier: CA263341
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56062
ClinVar RCV Id: RCV000049471
dbSNP Id: rs386833543
gnomAD v3: 9-6556168-TG-T
gnomAD v4: 9-6556168-TG-T
MyVariant Identifiers: chr9:g.6556169del (hg19) chr9:g.6556169del (hg38)
PubMed: PMID:16601880
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556169del , CM000671.2:g.6556169del GRCh38
NC_000009.11:g.6556169del , CM000671.1:g.6556169del GRCh37
NC_000009.10:g.6546169del NCBI36
NG_016397.1:g.94524del , LRG_643:g.94524del

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2186del MANE Select ENSP00000370737.4:p.Ala729GlufsTer3
ENST00000638233.1:n.621del
ENST00000638661.1:c.386del ENSP00000491369.1:p.Ala129GlufsTer3
ENST00000638694.1:n.373del
ENST00000639318.1:c.386del ENSP00000491932.1:p.Ala129GlufsTer3
ENST00000639364.1:n.1886del
ENST00000639443.1:n.1754del
ENST00000639954.1:n.1894del
ENST00000640505.1:n.425del
ENST00000321612.6:c.2186del ENSP00000370737.3:p.Ala729GlufsTer3
NM_000170.2:c.2186del , LRG_643t1:c.2186del NP_000161.2:p.Ala729GlufsTer3
NM_000170.3:c.2186del MANE Select NP_000161.2:p.Ala729GlufsTer3
Search 100 bp 5'
Search 100 bp 3'