Canonical Allele Identifier: CA4980128

Gene: GLDC

Linked Data

• ClinVar Variation Id: 280015
• ClinVar RCV Id: RCV000353440 ; RCV000411816
• dbSNP Id: rs149070244
• ExAC: 9:6540050 C / G
• gnomAD v2: 9-6540050-C-G
• gnomAD v3: 9-6540050-C-G
• gnomAD v4: 9-6540050-C-G
• MyVariant Identifiers: chr9:g.6540050C>G (hg19) ; chr9:g.6540050C>G (hg38)
• PubMed: PMID:16450403

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6540050C>G , CM000671.2:g.6540050C>G	GRCh38
NC_000009.11:g.6540050C>G , CM000671.1:g.6540050C>G	GRCh37
NC_000009.10:g.6530050C>G	NCBI36
NG_016397.1:g.110643G>C , LRG_643:g.110643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2665+1G>C MANE Select	ENSP00000370737.4:n.2665+1G>C
ENST00000638233.1:n.1100+1G>C
ENST00000638661.1:c.865+1G>C	ENSP00000491369.1:n.865+1G>C
ENST00000638694.1:n.852+1G>C
ENST00000639318.1:c.770-3814G>C	ENSP00000491932.1:n.770-3814G>C
ENST00000639364.1:n.2365+1G>C
ENST00000639443.1:n.2233+1G>C
ENST00000639461.1:n.1766+1G>C
ENST00000639639.1:c.367+1G>C	ENSP00000491312.1:n.367+1G>C
ENST00000639954.1:n.2373+1G>C
ENST00000640505.1:n.904+1G>C
ENST00000321612.6:c.2665+1G>C	ENSP00000370737.3:n.2665+1G>C
ENST00000477960.1:n.129+1G>C
NM_000170.2:c.2665+1G>C , LRG_643t1:c.2665+1G>C	NP_000161.2:n.2665+1G>C
NM_000170.3:c.2665+1G>C MANE Select	NP_000161.2:n.2665+1G>C