Canonical Allele Identifier: CA188650954

Gene: GLDC

Linked Data

• ClinVar Variation Id: 570824
• ClinVar RCV Id: RCV000691783
• dbSNP Id: rs912659426
• gnomAD v2: 9-6556218-C-T
• gnomAD v3: 9-6556218-C-T
• gnomAD v4: 9-6556218-C-T
• MyVariant Identifiers: chr9:g.6556218C>T (hg19) ; chr9:g.6556218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556218C>T , CM000671.2:g.6556218C>T	GRCh38
NC_000009.11:g.6556218C>T , CM000671.1:g.6556218C>T	GRCh37
NC_000009.10:g.6546218C>T	NCBI36
NG_016397.1:g.94475G>A , LRG_643:g.94475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2137G>A MANE Select	ENSP00000370737.4:p.Val713Met
ENST00000638233.1:n.572G>A
ENST00000638661.1:c.337G>A	ENSP00000491369.1:p.Val113Met
ENST00000638694.1:n.324G>A
ENST00000639318.1:c.337G>A	ENSP00000491932.1:p.Val113Met
ENST00000639364.1:n.1837G>A
ENST00000639443.1:n.1705G>A
ENST00000639954.1:n.1845G>A
ENST00000640505.1:n.376G>A
ENST00000321612.6:c.2137G>A	ENSP00000370737.3:p.Val713Met
NM_000170.2:c.2137G>A , LRG_643t1:c.2137G>A	NP_000161.2:p.Val713Met
NM_000170.3:c.2137G>A MANE Select	NP_000161.2:p.Val713Met