Canonical Allele Identifier: CA372881818

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1478435
• ClinVar RCV Id: RCV001998612
• dbSNP Id: rs1305077560
• MyVariant Identifiers: chr9:g.6558566T>C (hg19) ; chr9:g.6558566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558566T>C , CM000671.2:g.6558566T>C	GRCh38
NC_000009.11:g.6558566T>C , CM000671.1:g.6558566T>C	GRCh37
NC_000009.10:g.6548566T>C	NCBI36
NG_016397.1:g.92127A>G , LRG_643:g.92127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2045A>G MANE Select	ENSP00000370737.4:p.Lys682Arg
ENST00000460457.2:n.205A>G
ENST00000638233.1:n.480A>G
ENST00000638661.1:c.245A>G	ENSP00000491369.1:p.Lys82Arg
ENST00000638694.1:n.232A>G
ENST00000639318.1:c.245A>G	ENSP00000491932.1:p.Lys82Arg
ENST00000639364.1:n.1745A>G
ENST00000639443.1:n.1613A>G
ENST00000639954.1:n.1753A>G
ENST00000640208.1:c.245A>G	ENSP00000491895.1:p.Lys82Arg
ENST00000640505.1:n.284A>G
ENST00000640592.1:n.1928A>G
ENST00000321612.6:c.2045A>G	ENSP00000370737.3:p.Lys682Arg
ENST00000460457.1:n.184A>G
NM_000170.2:c.2045A>G , LRG_643t1:c.2045A>G	NP_000161.2:p.Lys682Arg
NM_000170.3:c.2045A>G MANE Select	NP_000161.2:p.Lys682Arg