Canonical Allele Identifier: CA263325

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56056
• ClinVar RCV Id: RCV000049465
• dbSNP Id: rs386833537
• gnomAD v4: 9-6558615-G-A
• MyVariant Identifiers: chr9:g.6558615G>A (hg19) ; chr9:g.6558615G>A (hg38)
• PubMed: PMID:16450403

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558615G>A , CM000671.2:g.6558615G>A	GRCh38
NC_000009.11:g.6558615G>A , CM000671.1:g.6558615G>A	GRCh37
NC_000009.10:g.6548615G>A	NCBI36
NG_016397.1:g.92078C>T , LRG_643:g.92078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1996C>T MANE Select	ENSP00000370737.4:p.Gln666Ter
ENST00000460457.2:n.156C>T
ENST00000638233.1:n.431C>T
ENST00000638661.1:c.196C>T	ENSP00000491369.1:p.Gln66Ter
ENST00000638694.1:n.183C>T
ENST00000639318.1:c.196C>T	ENSP00000491932.1:p.Gln66Ter
ENST00000639364.1:n.1696C>T
ENST00000639443.1:n.1564C>T
ENST00000639954.1:n.1704C>T
ENST00000640208.1:c.196C>T	ENSP00000491895.1:p.Gln66Ter
ENST00000640505.1:n.235C>T
ENST00000640592.1:n.1879C>T
ENST00000321612.6:c.1996C>T	ENSP00000370737.3:p.Gln666Ter
ENST00000460457.1:n.135C>T
NM_000170.2:c.1996C>T , LRG_643t1:c.1996C>T	NP_000161.2:p.Gln666Ter
NM_000170.3:c.1996C>T MANE Select	NP_000161.2:p.Gln666Ter