Canonical Allele Identifier: CA372881241
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6556193-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556193C>T , CM000671.2:g.6556193C>T GRCh38
NC_000009.11:g.6556193C>T , CM000671.1:g.6556193C>T GRCh37
NC_000009.10:g.6546193C>T NCBI36
NG_016397.1:g.94500G>A , LRG_643:g.94500G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2162G>A MANE Select ENSP00000370737.4:p.Gly721Glu
ENST00000638233.1:n.597G>A
ENST00000638661.1:c.362G>A ENSP00000491369.1:p.Gly121Glu
ENST00000638694.1:n.349G>A
ENST00000639318.1:c.362G>A ENSP00000491932.1:p.Gly121Glu
ENST00000639364.1:n.1862G>A
ENST00000639443.1:n.1730G>A
ENST00000639954.1:n.1870G>A
ENST00000640505.1:n.401G>A
ENST00000321612.6:c.2162G>A ENSP00000370737.3:p.Gly721Glu
NM_000170.2:c.2162G>A , LRG_643t1:c.2162G>A NP_000161.2:p.Gly721Glu
NM_000170.3:c.2162G>A MANE Select NP_000161.2:p.Gly721Glu