Canonical Allele Identifier: CA372881241

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556193-C-T
• MyVariant Identifiers: chr9:g.6556193C>T (hg19) ; chr9:g.6556193C>T (hg38)

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