Canonical Allele Identifier: CA372881391

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1393696
• ClinVar RCV Id: RCV001884600
• dbSNP Id: rs2129726512
• MyVariant Identifiers: chr9:g.6556264A>C (hg19) ; chr9:g.6556264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556264A>C , CM000671.2:g.6556264A>C	GRCh38
NC_000009.11:g.6556264A>C , CM000671.1:g.6556264A>C	GRCh37
NC_000009.10:g.6546264A>C	NCBI36
NG_016397.1:g.94429T>G , LRG_643:g.94429T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2091T>G MANE Select	ENSP00000370737.4:p.Ile697Met
ENST00000638233.1:n.526T>G
ENST00000638661.1:c.291T>G	ENSP00000491369.1:p.Ile97Met
ENST00000638694.1:n.278T>G
ENST00000639318.1:c.291T>G	ENSP00000491932.1:p.Ile97Met
ENST00000639364.1:n.1791T>G
ENST00000639443.1:n.1659T>G
ENST00000639954.1:n.1799T>G
ENST00000640505.1:n.330T>G
ENST00000321612.6:c.2091T>G	ENSP00000370737.3:p.Ile697Met
NM_000170.2:c.2091T>G , LRG_643t1:c.2091T>G	NP_000161.2:p.Ile697Met
NM_000170.3:c.2091T>G MANE Select	NP_000161.2:p.Ile697Met