Canonical Allele Identifier: CA188651005

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2718966
• ClinVar RCV Id: RCV003513245
• dbSNP Id: rs372470287
• gnomAD v2: 9-6556318-G-T
• gnomAD v4: 9-6556318-G-T
• MyVariant Identifiers: chr9:g.6556318G>T (hg19) ; chr9:g.6556318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556318G>T , CM000671.2:g.6556318G>T	GRCh38
NC_000009.11:g.6556318G>T , CM000671.1:g.6556318G>T	GRCh37
NC_000009.10:g.6546318G>T	NCBI36
NG_016397.1:g.94375C>A , LRG_643:g.94375C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2053-16C>A MANE Select	ENSP00000370737.4:n.2053-16C>A
ENST00000638233.1:n.488-16C>A
ENST00000638661.1:c.253-16C>A	ENSP00000491369.1:n.253-16C>A
ENST00000638694.1:n.240-16C>A
ENST00000639318.1:c.253-16C>A	ENSP00000491932.1:n.253-16C>A
ENST00000639364.1:n.1753-16C>A
ENST00000639443.1:n.1621-16C>A
ENST00000639954.1:n.1761-16C>A
ENST00000640505.1:n.292-16C>A
ENST00000321612.6:c.2053-16C>A	ENSP00000370737.3:n.2053-16C>A
NM_000170.2:c.2053-16C>A , LRG_643t1:c.2053-16C>A	NP_000161.2:n.2053-16C>A
NM_000170.3:c.2053-16C>A MANE Select	NP_000161.2:n.2053-16C>A