Canonical Allele Identifier: CA1120890132
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1818468735
gnomAD v4: 9-6595216-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595216C>A , CM000671.2:g.6595216C>A GRCh38
NC_000009.11:g.6595216C>A , CM000671.1:g.6595216C>A GRCh37
NC_000009.10:g.6585216C>A NCBI36
NG_016397.1:g.55477G>T , LRG_643:g.55477G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1156-97G>T MANE Select ENSP00000370737.4:n.1156-97G>T
ENST00000638654.1:c.403-97G>T ENSP00000491101.1:n.403-97G>T
ENST00000639364.1:n.856-97G>T
ENST00000639443.1:n.724-97G>T
ENST00000639493.1:n.308-97G>T
ENST00000639954.1:n.864-97G>T
ENST00000640592.1:n.1039-97G>T
ENST00000321612.6:c.1156-97G>T ENSP00000370737.3:n.1156-97G>T
ENST00000463305.1:n.240-97G>T
NM_000170.2:c.1156-97G>T , LRG_643t1:c.1156-97G>T NP_000161.2:n.1156-97G>T
NM_000170.3:c.1156-97G>T MANE Select NP_000161.2:n.1156-97G>T