Canonical Allele Identifier: CA4981276

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462861
• ClinVar RCV Id: RCV000526664 ; RCV001550875 ; RCV002527767 ; RCV003942780
• dbSNP Id: rs141601131
• ExAC: 9:6645310 C / A
• gnomAD v2: 9-6645310-C-A
• gnomAD v3: 9-6645310-C-A
• gnomAD v4: 9-6645310-C-A
• MyVariant Identifiers: chr9:g.6645310C>A (hg19) ; chr9:g.6645310C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6645310C>A , CM000671.2:g.6645310C>A	GRCh38
NC_000009.11:g.6645310C>A , CM000671.1:g.6645310C>A	GRCh37
NC_000009.10:g.6635310C>A	NCBI36
NG_016397.1:g.5383G>T , LRG_643:g.5383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.190G>T MANE Select	ENSP00000370737.4:p.Ala64Ser
ENST00000321612.6:c.190G>T	ENSP00000370737.3:p.Ala64Ser
NM_000170.2:c.190G>T , LRG_643t1:c.190G>T	NP_000161.2:p.Ala64Ser
XM_024447726.1:c.321C>A	XP_024303494.1:p.Ser107Arg
NM_000170.3:c.190G>T MANE Select	NP_000161.2:p.Ala64Ser