Canonical Allele Identifier: CA188667826

Gene: GLDC

Linked Data

• dbSNP Id: rs970779043
• gnomAD v3: 9-6595172-G-C
• gnomAD v4: 9-6595172-G-C
• MyVariant Identifiers: chr9:g.6595172G>C (hg19) ; chr9:g.6595172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595172G>C , CM000671.2:g.6595172G>C	GRCh38
NC_000009.11:g.6595172G>C , CM000671.1:g.6595172G>C	GRCh37
NC_000009.10:g.6585172G>C	NCBI36
NG_016397.1:g.55521C>G , LRG_643:g.55521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1156-53C>G MANE Select	ENSP00000370737.4:n.1156-53C>G
ENST00000638654.1:c.403-53C>G	ENSP00000491101.1:n.403-53C>G
ENST00000639364.1:n.856-53C>G
ENST00000639443.1:n.724-53C>G
ENST00000639493.1:n.308-53C>G
ENST00000639954.1:n.864-53C>G
ENST00000640592.1:n.1039-53C>G
ENST00000321612.6:c.1156-53C>G	ENSP00000370737.3:n.1156-53C>G
ENST00000463305.1:n.240-53C>G
NM_000170.2:c.1156-53C>G , LRG_643t1:c.1156-53C>G	NP_000161.2:n.1156-53C>G
NM_000170.3:c.1156-53C>G MANE Select	NP_000161.2:n.1156-53C>G