Canonical Allele Identifier: CA372894300

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595062-C-T
• MyVariant Identifiers: chr9:g.6595062C>T (hg19) ; chr9:g.6595062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595062C>T , CM000671.2:g.6595062C>T	GRCh38
NC_000009.11:g.6595062C>T , CM000671.1:g.6595062C>T	GRCh37
NC_000009.10:g.6585062C>T	NCBI36
NG_016397.1:g.55631G>A , LRG_643:g.55631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1213G>A MANE Select	ENSP00000370737.4:p.Glu405Lys
ENST00000638654.1:c.460G>A	ENSP00000491101.1:p.Glu154Lys
ENST00000639364.1:n.913G>A
ENST00000639443.1:n.781G>A
ENST00000639493.1:n.365G>A
ENST00000639954.1:n.921G>A
ENST00000640592.1:n.1096G>A
ENST00000321612.6:c.1213G>A	ENSP00000370737.3:p.Glu405Lys
ENST00000463305.1:n.297G>A
NM_000170.2:c.1213G>A , LRG_643t1:c.1213G>A	NP_000161.2:p.Glu405Lys
NM_000170.3:c.1213G>A MANE Select	NP_000161.2:p.Glu405Lys