Canonical Allele Identifier: CA463585677

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2693381
• ClinVar RCV Id: RCV003512254
• dbSNP Id: rs1360193266
• gnomAD v2: 9-6558613-C-T
• gnomAD v4: 9-6558613-C-T
• MyVariant Identifiers: chr9:g.6558613C>T (hg19) ; chr9:g.6558613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558613C>T , CM000671.2:g.6558613C>T	GRCh38
NC_000009.11:g.6558613C>T , CM000671.1:g.6558613C>T	GRCh37
NC_000009.10:g.6548613C>T	NCBI36
NG_016397.1:g.92080G>A , LRG_643:g.92080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1998G>A MANE Select	ENSP00000370737.4:p.Gln666=
ENST00000460457.2:n.158G>A
ENST00000638233.1:n.433G>A
ENST00000638661.1:c.198G>A	ENSP00000491369.1:p.Gln66=
ENST00000638694.1:n.185G>A
ENST00000639318.1:c.198G>A	ENSP00000491932.1:p.Gln66=
ENST00000639364.1:n.1698G>A
ENST00000639443.1:n.1566G>A
ENST00000639954.1:n.1706G>A
ENST00000640208.1:c.198G>A	ENSP00000491895.1:p.Gln66=
ENST00000640505.1:n.237G>A
ENST00000640592.1:n.1881G>A
ENST00000321612.6:c.1998G>A	ENSP00000370737.3:p.Gln666=
ENST00000460457.1:n.137G>A
NM_000170.2:c.1998G>A , LRG_643t1:c.1998G>A	NP_000161.2:p.Gln666=
NM_000170.3:c.1998G>A MANE Select	NP_000161.2:p.Gln666=