Canonical Allele Identifier: CA463595238

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1605401
• ClinVar RCV Id: RCV002149784
• dbSNP Id: rs2129853644
• gnomAD v4: 9-6592965-G-C
• MyVariant Identifiers: chr9:g.6592965G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6592965G>C , CM000671.2:g.6592965G>C	GRCh38
NC_000009.11:g.6592965G>C , CM000671.1:g.6592965G>C	GRCh37
NC_000009.10:g.6582965G>C	NCBI36
NG_016397.1:g.57728C>G , LRG_643:g.57728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1287C>G MANE Select	ENSP00000370737.4:p.Leu429=
ENST00000639364.1:n.987C>G
ENST00000639443.1:n.855C>G
ENST00000639493.1:n.439C>G
ENST00000639954.1:n.995C>G
ENST00000640592.1:n.1170C>G
ENST00000640703.1:n.130C>G
ENST00000321612.6:c.1287C>G	ENSP00000370737.3:p.Leu429=
ENST00000463305.1:n.371C>G
NM_000170.2:c.1287C>G , LRG_643t1:c.1287C>G	NP_000161.2:p.Leu429=
NM_000170.3:c.1287C>G MANE Select	NP_000161.2:p.Leu429=