Canonical Allele Identifier: CA2573144501

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1666273
• ClinVar RCV Id: RCV002184307
• dbSNP Id: rs2129862068
• gnomAD v4: 9-6595123-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595123A>C , CM000671.2:g.6595123A>C	GRCh38
NC_000009.11:g.6595123A>C , CM000671.1:g.6595123A>C	GRCh37
NC_000009.10:g.6585123A>C	NCBI36
NG_016397.1:g.55570T>G , LRG_643:g.55570T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1156-4T>G MANE Select	ENSP00000370737.4:n.1156-4T>G
ENST00000638654.1:c.403-4T>G	ENSP00000491101.1:n.403-4T>G
ENST00000639364.1:n.856-4T>G
ENST00000639443.1:n.724-4T>G
ENST00000639493.1:n.308-4T>G
ENST00000639954.1:n.864-4T>G
ENST00000640592.1:n.1039-4T>G
ENST00000321612.6:c.1156-4T>G	ENSP00000370737.3:n.1156-4T>G
ENST00000463305.1:n.240-4T>G
NM_000170.2:c.1156-4T>G , LRG_643t1:c.1156-4T>G	NP_000161.2:n.1156-4T>G
NM_000170.3:c.1156-4T>G MANE Select	NP_000161.2:n.1156-4T>G