Canonical Allele Identifier: CA372881281
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556211T>G , CM000671.2:g.6556211T>G GRCh38
NC_000009.11:g.6556211T>G , CM000671.1:g.6556211T>G GRCh37
NC_000009.10:g.6546211T>G NCBI36
NG_016397.1:g.94482A>C , LRG_643:g.94482A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2144A>C MANE Select ENSP00000370737.4:p.Asp715Ala
ENST00000638233.1:n.579A>C
ENST00000638661.1:c.344A>C ENSP00000491369.1:p.Asp115Ala
ENST00000638694.1:n.331A>C
ENST00000639318.1:c.344A>C ENSP00000491932.1:p.Asp115Ala
ENST00000639364.1:n.1844A>C
ENST00000639443.1:n.1712A>C
ENST00000639954.1:n.1852A>C
ENST00000640505.1:n.383A>C
ENST00000321612.6:c.2144A>C ENSP00000370737.3:p.Asp715Ala
NM_000170.2:c.2144A>C , LRG_643t1:c.2144A>C NP_000161.2:p.Asp715Ala
NM_000170.3:c.2144A>C MANE Select NP_000161.2:p.Asp715Ala