Canonical Allele Identifier: CA372881355

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556245-C-G
• MyVariant Identifiers: chr9:g.6556245C>G (hg19) ; chr9:g.6556245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556245C>G , CM000671.2:g.6556245C>G	GRCh38
NC_000009.11:g.6556245C>G , CM000671.1:g.6556245C>G	GRCh37
NC_000009.10:g.6546245C>G	NCBI36
NG_016397.1:g.94448G>C , LRG_643:g.94448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2110G>C MANE Select	ENSP00000370737.4:p.Gly704Arg
ENST00000638233.1:n.545G>C
ENST00000638661.1:c.310G>C	ENSP00000491369.1:p.Gly104Arg
ENST00000638694.1:n.297G>C
ENST00000639318.1:c.310G>C	ENSP00000491932.1:p.Gly104Arg
ENST00000639364.1:n.1810G>C
ENST00000639443.1:n.1678G>C
ENST00000639954.1:n.1818G>C
ENST00000640505.1:n.349G>C
ENST00000321612.6:c.2110G>C	ENSP00000370737.3:p.Gly704Arg
NM_000170.2:c.2110G>C , LRG_643t1:c.2110G>C	NP_000161.2:p.Gly704Arg
NM_000170.3:c.2110G>C MANE Select	NP_000161.2:p.Gly704Arg