Canonical Allele Identifier: CA645544579

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2850933
• ClinVar RCV Id: RCV003625857
• COSMIC: COSM6047933

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595009C>T , CM000671.2:g.6595009C>T	GRCh38
NC_000009.11:g.6595009C>T , CM000671.1:g.6595009C>T	GRCh37
NC_000009.10:g.6585009C>T	NCBI36
NG_016397.1:g.55684G>A , LRG_643:g.55684G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1261+5G>A MANE Select	ENSP00000370737.4:n.1261+5G>A
ENST00000639364.1:n.961+5G>A
ENST00000639443.1:n.829+5G>A
ENST00000639493.1:n.413+5G>A
ENST00000639954.1:n.969+5G>A
ENST00000640592.1:n.1144+5G>A
ENST00000321612.6:c.1261+5G>A	ENSP00000370737.3:n.1261+5G>A
ENST00000463305.1:n.345+5G>A
NM_000170.2:c.1261+5G>A , LRG_643t1:c.1261+5G>A	NP_000161.2:n.1261+5G>A
NM_000170.3:c.1261+5G>A MANE Select	NP_000161.2:n.1261+5G>A