Canonical Allele Identifier: CA372881202

Gene: GLDC

Linked Data

• dbSNP Id: rs192045547
• gnomAD v3: 9-6556174-G-T
• gnomAD v4: 9-6556174-G-T
• MyVariant Identifiers: chr9:g.6556174G>T (hg19) ; chr9:g.6556174G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2181C>A MANE Select	ENSP00000370737.4:p.Asp727Glu
ENST00000638233.1:n.616C>A
ENST00000638661.1:c.381C>A	ENSP00000491369.1:p.Asp127Glu
ENST00000638694.1:n.368C>A
ENST00000639318.1:c.381C>A	ENSP00000491932.1:p.Asp127Glu
ENST00000639364.1:n.1881C>A
ENST00000639443.1:n.1749C>A
ENST00000639954.1:n.1889C>A
ENST00000640505.1:n.420C>A
ENST00000321612.6:c.2181C>A	ENSP00000370737.3:p.Asp727Glu
NM_000170.2:c.2181C>A , LRG_643t1:c.2181C>A	NP_000161.2:p.Asp727Glu
NM_000170.3:c.2181C>A MANE Select	NP_000161.2:p.Asp727Glu