Canonical Allele Identifier: CA372881207

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1490970
• ClinVar RCV Id: RCV002009940
• dbSNP Id: rs2129725947
• MyVariant Identifiers: chr9:g.6556176C>G (hg19) ; chr9:g.6556176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556176C>G , CM000671.2:g.6556176C>G	GRCh38
NC_000009.11:g.6556176C>G , CM000671.1:g.6556176C>G	GRCh37
NC_000009.10:g.6546176C>G	NCBI36
NG_016397.1:g.94517G>C , LRG_643:g.94517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2179G>C MANE Select	ENSP00000370737.4:p.Asp727His
ENST00000638233.1:n.614G>C
ENST00000638661.1:c.379G>C	ENSP00000491369.1:p.Asp127His
ENST00000638694.1:n.366G>C
ENST00000639318.1:c.379G>C	ENSP00000491932.1:p.Asp127His
ENST00000639364.1:n.1879G>C
ENST00000639443.1:n.1747G>C
ENST00000639954.1:n.1887G>C
ENST00000640505.1:n.418G>C
ENST00000321612.6:c.2179G>C	ENSP00000370737.3:p.Asp727His
NM_000170.2:c.2179G>C , LRG_643t1:c.2179G>C	NP_000161.2:p.Asp727His
NM_000170.3:c.2179G>C MANE Select	NP_000161.2:p.Asp727His