Canonical Allele Identifier: CA2689362116

Gene: GLDC

Linked Data

• dbSNP Id: rs2129854033
• gnomAD v4: 9-6593033-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6593033T>C , CM000671.2:g.6593033T>C	GRCh38
NC_000009.11:g.6593033T>C , CM000671.1:g.6593033T>C	GRCh37
NC_000009.10:g.6583033T>C	NCBI36
NG_016397.1:g.57660A>G , LRG_643:g.57660A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1262-43A>G MANE Select	ENSP00000370737.4:n.1262-43A>G
ENST00000639364.1:n.962-43A>G
ENST00000639443.1:n.830-43A>G
ENST00000639493.1:n.414-43A>G
ENST00000639954.1:n.970-43A>G
ENST00000640592.1:n.1145-43A>G
ENST00000640703.1:n.62A>G
ENST00000321612.6:c.1262-43A>G	ENSP00000370737.3:n.1262-43A>G
ENST00000463305.1:n.346-43A>G
NM_000170.2:c.1262-43A>G , LRG_643t1:c.1262-43A>G	NP_000161.2:n.1262-43A>G
NM_000170.3:c.1262-43A>G MANE Select	NP_000161.2:n.1262-43A>G