Canonical Allele Identifier: CA4981226

Gene: GLDC

Linked Data

• ClinVar Variation Id: 531760
• ClinVar RCV Id: RCV000638267 ; RCV001552259
• dbSNP Id: rs770826242
• ExAC: 9:6644686 C / T
• gnomAD v2: 9-6644686-C-T
• gnomAD v3: 9-6644686-C-T
• gnomAD v4: 9-6644686-C-T
• MyVariant Identifiers: chr9:g.6644686C>T (hg19) ; chr9:g.6644686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6644686C>T , CM000671.2:g.6644686C>T	GRCh38
NC_000009.11:g.6644686C>T , CM000671.1:g.6644686C>T	GRCh37
NC_000009.10:g.6634686C>T	NCBI36
NG_016397.1:g.6007G>A , LRG_643:g.6007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.262G>A MANE Select	ENSP00000370737.4:p.Asp88Asn
ENST00000639954.1:n.106G>A
ENST00000640592.1:n.145G>A
ENST00000321612.6:c.262G>A	ENSP00000370737.3:p.Asp88Asn
NM_000170.2:c.262G>A , LRG_643t1:c.262G>A	NP_000161.2:p.Asp88Asn
XM_024447726.1:c.302+353C>T	XP_024303494.1:n.302+353C>T
NM_000170.3:c.262G>A MANE Select	NP_000161.2:p.Asp88Asn