Canonical Allele Identifier: CA372881387
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556262G>T , CM000671.2:g.6556262G>T GRCh38
NC_000009.11:g.6556262G>T , CM000671.1:g.6556262G>T GRCh37
NC_000009.10:g.6546262G>T NCBI36
NG_016397.1:g.94431C>A , LRG_643:g.94431C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2093C>A MANE Select ENSP00000370737.4:p.Thr698Lys
ENST00000638233.1:n.528C>A
ENST00000638661.1:c.293C>A ENSP00000491369.1:p.Thr98Lys
ENST00000638694.1:n.280C>A
ENST00000639318.1:c.293C>A ENSP00000491932.1:p.Thr98Lys
ENST00000639364.1:n.1793C>A
ENST00000639443.1:n.1661C>A
ENST00000639954.1:n.1801C>A
ENST00000640505.1:n.332C>A
ENST00000321612.6:c.2093C>A ENSP00000370737.3:p.Thr698Lys
NM_000170.2:c.2093C>A , LRG_643t1:c.2093C>A NP_000161.2:p.Thr698Lys
NM_000170.3:c.2093C>A MANE Select NP_000161.2:p.Thr698Lys