Canonical Allele Identifier: CA372881395

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556266-T-C
• MyVariant Identifiers: chr9:g.6556266T>C (hg19) ; chr9:g.6556266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556266T>C , CM000671.2:g.6556266T>C	GRCh38
NC_000009.11:g.6556266T>C , CM000671.1:g.6556266T>C	GRCh37
NC_000009.10:g.6546266T>C	NCBI36
NG_016397.1:g.94427A>G , LRG_643:g.94427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2089A>G MANE Select	ENSP00000370737.4:p.Ile697Val
ENST00000638233.1:n.524A>G
ENST00000638661.1:c.289A>G	ENSP00000491369.1:p.Ile97Val
ENST00000638694.1:n.276A>G
ENST00000639318.1:c.289A>G	ENSP00000491932.1:p.Ile97Val
ENST00000639364.1:n.1789A>G
ENST00000639443.1:n.1657A>G
ENST00000639954.1:n.1797A>G
ENST00000640505.1:n.328A>G
ENST00000321612.6:c.2089A>G	ENSP00000370737.3:p.Ile697Val
NM_000170.2:c.2089A>G , LRG_643t1:c.2089A>G	NP_000161.2:p.Ile697Val
NM_000170.3:c.2089A>G MANE Select	NP_000161.2:p.Ile697Val