Canonical Allele Identifier: CA2579298357

Gene: GLDC

Linked Data

• ClinVar Variation Id: 3004426
• ClinVar RCV Id: RCV003866065
• gnomAD v4: 9-6558696-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558696A>C , CM000671.2:g.6558696A>C	GRCh38
NC_000009.11:g.6558696A>C , CM000671.1:g.6558696A>C	GRCh37
NC_000009.10:g.6548696A>C	NCBI36
NG_016397.1:g.91997T>G , LRG_643:g.91997T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1927-12T>G MANE Select	ENSP00000370737.4:n.1927-12T>G
ENST00000460457.2:n.87-12T>G
ENST00000638233.1:n.362-12T>G
ENST00000638661.1:c.127-12T>G	ENSP00000491369.1:n.127-12T>G
ENST00000638694.1:n.114-12T>G
ENST00000639318.1:c.127-12T>G	ENSP00000491932.1:n.127-12T>G
ENST00000639364.1:n.1627-12T>G
ENST00000639443.1:n.1495-12T>G
ENST00000639954.1:n.1635-12T>G
ENST00000640208.1:c.127-12T>G	ENSP00000491895.1:n.127-12T>G
ENST00000640505.1:n.166-12T>G
ENST00000640592.1:n.1810-12T>G
ENST00000321612.6:c.1927-12T>G	ENSP00000370737.3:n.1927-12T>G
ENST00000460457.1:n.66-12T>G
NM_000170.2:c.1927-12T>G , LRG_643t1:c.1927-12T>G	NP_000161.2:n.1927-12T>G
NM_000170.3:c.1927-12T>G MANE Select	NP_000161.2:n.1927-12T>G