Canonical Allele Identifier: CA1830493646
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556281G= , CM000671.2:g.6556281G= GRCh38
NC_000009.11:g.6556281G= , CM000671.1:g.6556281G= GRCh37
NC_000009.10:g.6546281G= NCBI36
NG_016397.1:g.94412C= , LRG_643:g.94412C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2074C= MANE Select ENSP00000370737.4:p.Leu692=
ENST00000638233.1:n.509C=
ENST00000638661.1:c.274C= ENSP00000491369.1:p.Leu92=
ENST00000638694.1:n.261C=
ENST00000639318.1:c.274C= ENSP00000491932.1:p.Leu92=
ENST00000639364.1:n.1774C=
ENST00000639443.1:n.1642C=
ENST00000639954.1:n.1782C=
ENST00000640505.1:n.313C=
ENST00000321612.6:c.2074C= ENSP00000370737.3:p.Leu692=
NM_000170.2:c.2074C= , LRG_643t1:c.2074C= NP_000161.2:p.Leu692=
NM_000170.3:c.2074C= MANE Select NP_000161.2:p.Leu692=