Canonical Allele Identifier: CA4980429

Gene: GLDC

Linked Data

• ClinVar Variation Id: 799079
• ClinVar RCV Id: RCV001495407
• dbSNP Id: rs755812288
• ExAC: 9:6558552 C / G
• gnomAD v2: 9-6558552-C-G
• gnomAD v4: 9-6558552-C-G
• MyVariant Identifiers: chr9:g.6558552C>G (hg19) ; chr9:g.6558552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558552C>G , CM000671.2:g.6558552C>G	GRCh38
NC_000009.11:g.6558552C>G , CM000671.1:g.6558552C>G	GRCh37
NC_000009.10:g.6548552C>G	NCBI36
NG_016397.1:g.92141G>C , LRG_643:g.92141G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+7G>C MANE Select	ENSP00000370737.4:n.2052+7G>C
ENST00000460457.2:n.212+7G>C
ENST00000638233.1:n.487+7G>C
ENST00000638661.1:c.252+7G>C	ENSP00000491369.1:n.252+7G>C
ENST00000638694.1:n.239+7G>C
ENST00000639318.1:c.252+7G>C	ENSP00000491932.1:n.252+7G>C
ENST00000639364.1:n.1752+7G>C
ENST00000639443.1:n.1620+7G>C
ENST00000639954.1:n.1760+7G>C
ENST00000640208.1:c.259G>C	ENSP00000491895.1:p.Val87Leu
ENST00000640505.1:n.291+7G>C
ENST00000640592.1:n.1942G>C
ENST00000321612.6:c.2052+7G>C	ENSP00000370737.3:n.2052+7G>C
ENST00000460457.1:n.198G>C
NM_000170.2:c.2052+7G>C , LRG_643t1:c.2052+7G>C	NP_000161.2:n.2052+7G>C
NM_000170.3:c.2052+7G>C MANE Select	NP_000161.2:n.2052+7G>C