Canonical Allele Identifier: CA4980610

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462857
• ClinVar RCV Id: RCV000544389 ; RCV001288616 ; RCV003925633
• dbSNP Id: rs140516872
• ExAC: 9:6588665 T / G
• gnomAD v2: 9-6588665-T-G
• gnomAD v3: 9-6588665-T-G
• gnomAD v4: 9-6588665-T-G
• MyVariant Identifiers: chr9:g.6588665T>G (hg19) ; chr9:g.6588665T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6588665T>G , CM000671.2:g.6588665T>G	GRCh38
NC_000009.11:g.6588665T>G , CM000671.1:g.6588665T>G	GRCh37
NC_000009.10:g.6578665T>G	NCBI36
NG_016397.1:g.62028A>C , LRG_643:g.62028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1618A>C MANE Select	ENSP00000370737.4:p.Lys540Gln
ENST00000639364.1:n.1318A>C
ENST00000639443.1:n.1186A>C
ENST00000639954.1:n.1326A>C
ENST00000640592.1:n.1501A>C
ENST00000321612.6:c.1618A>C	ENSP00000370737.3:p.Lys540Gln
NM_000170.2:c.1618A>C , LRG_643t1:c.1618A>C	NP_000161.2:p.Lys540Gln
NM_000170.3:c.1618A>C MANE Select	NP_000161.2:p.Lys540Gln