Canonical Allele Identifier: CA372894024

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2132139
• ClinVar RCV Id: RCV003036594
• gnomAD v4: 9-6592916-C-T
• MyVariant Identifiers: chr9:g.6592916C>T (hg19) ; chr9:g.6592916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6592916C>T , CM000671.2:g.6592916C>T	GRCh38
NC_000009.11:g.6592916C>T , CM000671.1:g.6592916C>T	GRCh37
NC_000009.10:g.6582916C>T	NCBI36
NG_016397.1:g.57777G>A , LRG_643:g.57777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1336G>A MANE Select	ENSP00000370737.4:p.Val446Met
ENST00000639364.1:n.1036G>A
ENST00000639443.1:n.904G>A
ENST00000639493.1:n.488G>A
ENST00000639954.1:n.1044G>A
ENST00000640592.1:n.1219G>A
ENST00000640703.1:n.179G>A
ENST00000321612.6:c.1336G>A	ENSP00000370737.3:p.Val446Met
ENST00000463305.1:n.420G>A
NM_000170.2:c.1336G>A , LRG_643t1:c.1336G>A	NP_000161.2:p.Val446Met
NM_000170.3:c.1336G>A MANE Select	NP_000161.2:p.Val446Met