Canonical Allele Identifier: CA463597560

Gene: GLDC

Linked Data

• ClinVar Variation Id: 799957
• ClinVar RCV Id: RCV000983583
• dbSNP Id: rs781613958
• MyVariant Identifiers: chr9:g.6595114G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595114G>T , CM000671.2:g.6595114G>T	GRCh38
NC_000009.11:g.6595114G>T , CM000671.1:g.6595114G>T	GRCh37
NC_000009.10:g.6585114G>T	NCBI36
NG_016397.1:g.55579C>A , LRG_643:g.55579C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1161C>A MANE Select	ENSP00000370737.4:p.Leu387=
ENST00000638654.1:c.408C>A	ENSP00000491101.1:p.Leu136=
ENST00000639364.1:n.861C>A
ENST00000639443.1:n.729C>A
ENST00000639493.1:n.313C>A
ENST00000639954.1:n.869C>A
ENST00000640592.1:n.1044C>A
ENST00000321612.6:c.1161C>A	ENSP00000370737.3:p.Leu387=
ENST00000463305.1:n.245C>A
NM_000170.2:c.1161C>A , LRG_643t1:c.1161C>A	NP_000161.2:p.Leu387=
NM_000170.3:c.1161C>A MANE Select	NP_000161.2:p.Leu387=