Canonical Allele Identifier: CA2689362394

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595138-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595138T>C , CM000671.2:g.6595138T>C	GRCh38
NC_000009.11:g.6595138T>C , CM000671.1:g.6595138T>C	GRCh37
NC_000009.10:g.6585138T>C	NCBI36
NG_016397.1:g.55555A>G , LRG_643:g.55555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1156-19A>G MANE Select	ENSP00000370737.4:n.1156-19A>G
ENST00000638654.1:c.403-19A>G	ENSP00000491101.1:n.403-19A>G
ENST00000639364.1:n.856-19A>G
ENST00000639443.1:n.724-19A>G
ENST00000639493.1:n.308-19A>G
ENST00000639954.1:n.864-19A>G
ENST00000640592.1:n.1039-19A>G
ENST00000321612.6:c.1156-19A>G	ENSP00000370737.3:n.1156-19A>G
ENST00000463305.1:n.240-19A>G
NM_000170.2:c.1156-19A>G , LRG_643t1:c.1156-19A>G	NP_000161.2:n.1156-19A>G
NM_000170.3:c.1156-19A>G MANE Select	NP_000161.2:n.1156-19A>G