Canonical Allele Identifier: CA1830493423

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556199_6556202delinsTGAT , CM000671.2:g.6556199_6556202delinsTGAT	GRCh38
NC_000009.11:g.6556199_6556202delinsTGAT , CM000671.1:g.6556199_6556202delinsTGAT	GRCh37
NC_000009.10:g.6546199_6546202delinsTGAT	NCBI36
NG_016397.1:g.94491_94494delinsATCA , LRG_643:g.94491_94494delinsATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2153_2156delinsATCA MANE Select	ENSP00000370737.4:p.His718=
ENST00000638233.1:n.588_591delinsATCA
ENST00000638661.1:c.353_356delinsATCA	ENSP00000491369.1:p.His118=
ENST00000638694.1:n.340_343delinsATCA
ENST00000639318.1:c.353_356delinsATCA	ENSP00000491932.1:p.His118=
ENST00000639364.1:n.1853_1856delinsATCA
ENST00000639443.1:n.1721_1724delinsATCA
ENST00000639954.1:n.1861_1864delinsATCA
ENST00000640505.1:n.392_395delinsATCA
ENST00000321612.6:c.2153_2156delinsATCA	ENSP00000370737.3:p.His718=
NM_000170.2:c.2153_2156delinsATCA , LRG_643t1:c.2153_2156delinsATCA	NP_000161.2:p.His718=
NM_000170.3:c.2153_2156delinsATCA MANE Select	NP_000161.2:p.His718=