Canonical Allele Identifier: CA2782787559
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595208G>A , CM000671.2:g.6595208G>A GRCh38
NC_000009.11:g.6595208G>A , CM000671.1:g.6595208G>A GRCh37
NC_000009.10:g.6585208G>A NCBI36
NG_016397.1:g.55485C>T , LRG_643:g.55485C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1156-89C>T MANE Select ENSP00000370737.4:n.1156-89C>T
ENST00000638654.1:c.403-89C>T ENSP00000491101.1:n.403-89C>T
ENST00000639364.1:n.856-89C>T
ENST00000639443.1:n.724-89C>T
ENST00000639493.1:n.308-89C>T
ENST00000639954.1:n.864-89C>T
ENST00000640592.1:n.1039-89C>T
ENST00000321612.6:c.1156-89C>T ENSP00000370737.3:n.1156-89C>T
ENST00000463305.1:n.240-89C>T
NM_000170.2:c.1156-89C>T , LRG_643t1:c.1156-89C>T NP_000161.2:n.1156-89C>T
NM_000170.3:c.1156-89C>T MANE Select NP_000161.2:n.1156-89C>T