Canonical Allele Identifier: CA2739269146

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2824262
• ClinVar RCV Id: RCV003625397

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556317G>A , CM000671.2:g.6556317G>A	GRCh38
NC_000009.11:g.6556317G>A , CM000671.1:g.6556317G>A	GRCh37
NC_000009.10:g.6546317G>A	NCBI36
NG_016397.1:g.94376C>T , LRG_643:g.94376C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2053-15C>T MANE Select	ENSP00000370737.4:n.2053-15C>T
ENST00000638233.1:n.488-15C>T
ENST00000638661.1:c.253-15C>T	ENSP00000491369.1:n.253-15C>T
ENST00000638694.1:n.240-15C>T
ENST00000639318.1:c.253-15C>T	ENSP00000491932.1:n.253-15C>T
ENST00000639364.1:n.1753-15C>T
ENST00000639443.1:n.1621-15C>T
ENST00000639954.1:n.1761-15C>T
ENST00000640505.1:n.292-15C>T
ENST00000321612.6:c.2053-15C>T	ENSP00000370737.3:n.2053-15C>T
NM_000170.2:c.2053-15C>T , LRG_643t1:c.2053-15C>T	NP_000161.2:n.2053-15C>T
NM_000170.3:c.2053-15C>T MANE Select	NP_000161.2:n.2053-15C>T