Canonical Allele Identifier: CA4980386

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462865
• ClinVar RCV Id: RCV001086012 ; RCV000711816 ; RCV001701032
• dbSNP Id: rs147275962
• ExAC: 9:6556242 C / T
• gnomAD v2: 9-6556242-C-T
• gnomAD v3: 9-6556242-C-T
• gnomAD v4: 9-6556242-C-T
• MyVariant Identifiers: chr9:g.6556242C>T (hg19) ; chr9:g.6556242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556242C>T , CM000671.2:g.6556242C>T	GRCh38
NC_000009.11:g.6556242C>T , CM000671.1:g.6556242C>T	GRCh37
NC_000009.10:g.6546242C>T	NCBI36
NG_016397.1:g.94451G>A , LRG_643:g.94451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2113G>A MANE Select	ENSP00000370737.4:p.Val705Met
ENST00000638233.1:n.548G>A
ENST00000638661.1:c.313G>A	ENSP00000491369.1:p.Val105Met
ENST00000638694.1:n.300G>A
ENST00000639318.1:c.313G>A	ENSP00000491932.1:p.Val105Met
ENST00000639364.1:n.1813G>A
ENST00000639443.1:n.1681G>A
ENST00000639954.1:n.1821G>A
ENST00000640505.1:n.352G>A
ENST00000321612.6:c.2113G>A	ENSP00000370737.3:p.Val705Met
NM_000170.2:c.2113G>A , LRG_643t1:c.2113G>A	NP_000161.2:p.Val705Met
NM_000170.3:c.2113G>A MANE Select	NP_000161.2:p.Val705Met