Canonical Allele Identifier: CA372881178

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2630498
• ClinVar RCV Id: RCV003405771
• MyVariant Identifiers: chr9:g.6556163A>C (hg19) ; chr9:g.6556163A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556163A>C , CM000671.2:g.6556163A>C	GRCh38
NC_000009.11:g.6556163A>C , CM000671.1:g.6556163A>C	GRCh37
NC_000009.10:g.6546163A>C	NCBI36
NG_016397.1:g.94530T>G , LRG_643:g.94530T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2192T>G MANE Select	ENSP00000370737.4:p.Met731Arg
ENST00000638233.1:n.627T>G
ENST00000638661.1:c.392T>G	ENSP00000491369.1:p.Met131Arg
ENST00000638694.1:n.379T>G
ENST00000639318.1:c.392T>G	ENSP00000491932.1:p.Met131Arg
ENST00000639364.1:n.1892T>G
ENST00000639443.1:n.1760T>G
ENST00000639954.1:n.1900T>G
ENST00000640505.1:n.431T>G
ENST00000321612.6:c.2192T>G	ENSP00000370737.3:p.Met731Arg
NM_000170.2:c.2192T>G , LRG_643t1:c.2192T>G	NP_000161.2:p.Met731Arg
NM_000170.3:c.2192T>G MANE Select	NP_000161.2:p.Met731Arg