Canonical Allele Identifier: CA4980799

Gene: GLDC

Linked Data

• ClinVar Variation Id: 225378
• ClinVar RCV Id: RCV000243554 ; RCV000299139 ; RCV001706208
• dbSNP Id: rs144090917
• ExAC: 9:6595046 C / T
• gnomAD v2: 9-6595046-C-T
• gnomAD v3: 9-6595046-C-T
• gnomAD v4: 9-6595046-C-T
• MyVariant Identifiers: chr9:g.6595046C>T (hg19) ; chr9:g.6595046C>T (hg38)
• PubMed: PMID:12126939

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595046C>T , CM000671.2:g.6595046C>T	GRCh38
NC_000009.11:g.6595046C>T , CM000671.1:g.6595046C>T	GRCh37
NC_000009.10:g.6585046C>T	NCBI36
NG_016397.1:g.55647G>A , LRG_643:g.55647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1229G>A MANE Select	ENSP00000370737.4:p.Arg410Lys
ENST00000638654.1:c.476G>A	ENSP00000491101.1:p.Arg159Lys
ENST00000639364.1:n.929G>A
ENST00000639443.1:n.797G>A
ENST00000639493.1:n.381G>A
ENST00000639954.1:n.937G>A
ENST00000640592.1:n.1112G>A
ENST00000321612.6:c.1229G>A	ENSP00000370737.3:p.Arg410Lys
ENST00000463305.1:n.313G>A
NM_000170.2:c.1229G>A , LRG_643t1:c.1229G>A	NP_000161.2:p.Arg410Lys
NM_000170.3:c.1229G>A MANE Select	NP_000161.2:p.Arg410Lys