Canonical Allele Identifier: CA372894203

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595016-T-C
• MyVariant Identifiers: chr9:g.6595016T>C (hg19) ; chr9:g.6595016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595016T>C , CM000671.2:g.6595016T>C	GRCh38
NC_000009.11:g.6595016T>C , CM000671.1:g.6595016T>C	GRCh37
NC_000009.10:g.6585016T>C	NCBI36
NG_016397.1:g.55677A>G , LRG_643:g.55677A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1259A>G MANE Select	ENSP00000370737.4:p.Glu420Gly
ENST00000639364.1:n.959A>G
ENST00000639443.1:n.827A>G
ENST00000639493.1:n.411A>G
ENST00000639954.1:n.967A>G
ENST00000640592.1:n.1142A>G
ENST00000321612.6:c.1259A>G	ENSP00000370737.3:p.Glu420Gly
ENST00000463305.1:n.343A>G
NM_000170.2:c.1259A>G , LRG_643t1:c.1259A>G	NP_000161.2:p.Glu420Gly
NM_000170.3:c.1259A>G MANE Select	NP_000161.2:p.Glu420Gly