Canonical Allele Identifier: CA372881810

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1380919
• ClinVar RCV Id: RCV001921831
• dbSNP Id: rs1324189699
• gnomAD v2: 9-6558563-G-C
• gnomAD v3: 9-6558563-G-C
• gnomAD v4: 9-6558563-G-C
• MyVariant Identifiers: chr9:g.6558563G>C (hg19) ; chr9:g.6558563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558563G>C , CM000671.2:g.6558563G>C	GRCh38
NC_000009.11:g.6558563G>C , CM000671.1:g.6558563G>C	GRCh37
NC_000009.10:g.6548563G>C	NCBI36
NG_016397.1:g.92130C>G , LRG_643:g.92130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2048C>G MANE Select	ENSP00000370737.4:p.Ala683Gly
ENST00000460457.2:n.208C>G
ENST00000638233.1:n.483C>G
ENST00000638661.1:c.248C>G	ENSP00000491369.1:p.Ala83Gly
ENST00000638694.1:n.235C>G
ENST00000639318.1:c.248C>G	ENSP00000491932.1:p.Ala83Gly
ENST00000639364.1:n.1748C>G
ENST00000639443.1:n.1616C>G
ENST00000639954.1:n.1756C>G
ENST00000640208.1:c.248C>G	ENSP00000491895.1:p.Ala83Gly
ENST00000640505.1:n.287C>G
ENST00000640592.1:n.1931C>G
ENST00000321612.6:c.2048C>G	ENSP00000370737.3:p.Ala683Gly
ENST00000460457.1:n.187C>G
NM_000170.2:c.2048C>G , LRG_643t1:c.2048C>G	NP_000161.2:p.Ala683Gly
NM_000170.3:c.2048C>G MANE Select	NP_000161.2:p.Ala683Gly