Canonical Allele Identifier: CA372881198

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2735246
• ClinVar RCV Id: RCV003513606
• MyVariant Identifiers: chr9:g.6556172C>T (hg19) ; chr9:g.6556172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556172C>T , CM000671.2:g.6556172C>T	GRCh38
NC_000009.11:g.6556172C>T , CM000671.1:g.6556172C>T	GRCh37
NC_000009.10:g.6546172C>T	NCBI36
NG_016397.1:g.94521G>A , LRG_643:g.94521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2183G>A MANE Select	ENSP00000370737.4:p.Gly728Glu
ENST00000638233.1:n.618G>A
ENST00000638661.1:c.383G>A	ENSP00000491369.1:p.Gly128Glu
ENST00000638694.1:n.370G>A
ENST00000639318.1:c.383G>A	ENSP00000491932.1:p.Gly128Glu
ENST00000639364.1:n.1883G>A
ENST00000639443.1:n.1751G>A
ENST00000639954.1:n.1891G>A
ENST00000640505.1:n.422G>A
ENST00000321612.6:c.2183G>A	ENSP00000370737.3:p.Gly728Glu
NM_000170.2:c.2183G>A , LRG_643t1:c.2183G>A	NP_000161.2:p.Gly728Glu
NM_000170.3:c.2183G>A MANE Select	NP_000161.2:p.Gly728Glu