Canonical Allele Identifier: CA372881814

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1447127
• ClinVar RCV Id: RCV001988117
• dbSNP Id: rs2129734759
• gnomAD v4: 9-6558564-C-T
• MyVariant Identifiers: chr9:g.6558564C>T (hg19) ; chr9:g.6558564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558564C>T , CM000671.2:g.6558564C>T	GRCh38
NC_000009.11:g.6558564C>T , CM000671.1:g.6558564C>T	GRCh37
NC_000009.10:g.6548564C>T	NCBI36
NG_016397.1:g.92129G>A , LRG_643:g.92129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2047G>A MANE Select	ENSP00000370737.4:p.Ala683Thr
ENST00000460457.2:n.207G>A
ENST00000638233.1:n.482G>A
ENST00000638661.1:c.247G>A	ENSP00000491369.1:p.Ala83Thr
ENST00000638694.1:n.234G>A
ENST00000639318.1:c.247G>A	ENSP00000491932.1:p.Ala83Thr
ENST00000639364.1:n.1747G>A
ENST00000639443.1:n.1615G>A
ENST00000639954.1:n.1755G>A
ENST00000640208.1:c.247G>A	ENSP00000491895.1:p.Ala83Thr
ENST00000640505.1:n.286G>A
ENST00000640592.1:n.1930G>A
ENST00000321612.6:c.2047G>A	ENSP00000370737.3:p.Ala683Thr
ENST00000460457.1:n.186G>A
NM_000170.2:c.2047G>A , LRG_643t1:c.2047G>A	NP_000161.2:p.Ala683Thr
NM_000170.3:c.2047G>A MANE Select	NP_000161.2:p.Ala683Thr