Canonical Allele Identifier: CA1830496205

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1637745
• ClinVar RCV Id: RCV002137896
• dbSNP Id: rs1817682144
• gnomAD v4: 9-6558543-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558543A>C , CM000671.2:g.6558543A>C	GRCh38
NC_000009.11:g.6558543A>C , CM000671.1:g.6558543A>C	GRCh37
NC_000009.10:g.6548543A>C	NCBI36
NG_016397.1:g.92150T>G , LRG_643:g.92150T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+16T>G MANE Select	ENSP00000370737.4:n.2052+16T>G
ENST00000460457.2:n.212+16T>G
ENST00000638233.1:n.487+16T>G
ENST00000638661.1:c.252+16T>G	ENSP00000491369.1:n.252+16T>G
ENST00000638694.1:n.239+16T>G
ENST00000639318.1:c.252+16T>G	ENSP00000491932.1:n.252+16T>G
ENST00000639364.1:n.1752+16T>G
ENST00000639443.1:n.1620+16T>G
ENST00000639954.1:n.1760+16T>G
ENST00000640208.1:c.268T>G	ENSP00000491895.1:p.Leu90Val
ENST00000640505.1:n.291+16T>G
ENST00000640592.1:n.1951T>G
ENST00000321612.6:c.2052+16T>G	ENSP00000370737.3:n.2052+16T>G
ENST00000460457.1:n.207T>G
NM_000170.2:c.2052+16T>G , LRG_643t1:c.2052+16T>G	NP_000161.2:n.2052+16T>G
NM_000170.3:c.2052+16T>G MANE Select	NP_000161.2:n.2052+16T>G