Canonical Allele Identifier: CA4980372
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 367182
dbSNP Id: rs117460214
gnomAD v2: 9-6556206-T-C
gnomAD v3: 9-6556206-T-C
gnomAD v4: 9-6556206-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556206T>C , CM000671.2:g.6556206T>C GRCh38
NC_000009.11:g.6556206T>C , CM000671.1:g.6556206T>C GRCh37
NC_000009.10:g.6546206T>C NCBI36
NG_016397.1:g.94487A>G , LRG_643:g.94487A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2149A>G MANE Select ENSP00000370737.4:p.Ile717Val
ENST00000638233.1:n.584A>G
ENST00000638661.1:c.349A>G ENSP00000491369.1:p.Ile117Val
ENST00000638694.1:n.336A>G
ENST00000639318.1:c.349A>G ENSP00000491932.1:p.Ile117Val
ENST00000639364.1:n.1849A>G
ENST00000639443.1:n.1717A>G
ENST00000639954.1:n.1857A>G
ENST00000640505.1:n.388A>G
ENST00000321612.6:c.2149A>G ENSP00000370737.3:p.Ile717Val
NM_000170.2:c.2149A>G , LRG_643t1:c.2149A>G NP_000161.2:p.Ile717Val
NM_000170.3:c.2149A>G MANE Select NP_000161.2:p.Ile717Val