Canonical Allele Identifier: CA1830527817
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595116G= , CM000671.2:g.6595116G= GRCh38
NC_000009.11:g.6595116G= , CM000671.1:g.6595116G= GRCh37
NC_000009.10:g.6585116G= NCBI36
NG_016397.1:g.55577C= , LRG_643:g.55577C=

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1159C= MANE Select ENSP00000370737.4:p.Leu387=
ENST00000638654.1:c.406C= ENSP00000491101.1:p.Leu136=
ENST00000639364.1:n.859C=
ENST00000639443.1:n.727C=
ENST00000639493.1:n.311C=
ENST00000639954.1:n.867C=
ENST00000640592.1:n.1042C=
ENST00000321612.6:c.1159C= ENSP00000370737.3:p.Leu387=
ENST00000463305.1:n.243C=
NM_000170.2:c.1159C= , LRG_643t1:c.1159C= NP_000161.2:p.Leu387=
NM_000170.3:c.1159C= MANE Select NP_000161.2:p.Leu387=