Canonical Allele Identifier: CA4980330

Gene: GLDC

Linked Data

• ClinVar Variation Id: 967269
• ClinVar RCV Id: RCV002260692
• dbSNP Id: rs375850752
• ExAC: 9:6554772 A / T
• gnomAD v2: 9-6554772-A-T
• gnomAD v3: 9-6554772-A-T
• gnomAD v4: 9-6554772-A-T
• MyVariant Identifiers: chr9:g.6554772A>T (hg19) ; chr9:g.6554772A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554772A>T , CM000671.2:g.6554772A>T	GRCh38
NC_000009.11:g.6554772A>T , CM000671.1:g.6554772A>T	GRCh37
NC_000009.10:g.6544772A>T	NCBI36
NG_016397.1:g.95921T>A , LRG_643:g.95921T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2212T>A MANE Select	ENSP00000370737.4:p.Cys738Ser
ENST00000638233.1:n.647T>A
ENST00000638661.1:c.412T>A	ENSP00000491369.1:p.Cys138Ser
ENST00000638694.1:n.399T>A
ENST00000639318.1:c.412T>A	ENSP00000491932.1:p.Cys138Ser
ENST00000639364.1:n.1912T>A
ENST00000639443.1:n.1780T>A
ENST00000639639.1:c.-87T>A	ENSP00000491312.1:n.-87T>A
ENST00000639954.1:n.1920T>A
ENST00000640505.1:n.451T>A
ENST00000321612.6:c.2212T>A	ENSP00000370737.3:p.Cys738Ser
ENST00000467946.1:n.138T>A
NM_000170.2:c.2212T>A , LRG_643t1:c.2212T>A	NP_000161.2:p.Cys738Ser
NM_000170.3:c.2212T>A MANE Select	NP_000161.2:p.Cys738Ser