Canonical Allele Identifier: CA372881370
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556253G>C , CM000671.2:g.6556253G>C GRCh38
NC_000009.11:g.6556253G>C , CM000671.1:g.6556253G>C GRCh37
NC_000009.10:g.6546253G>C NCBI36
NG_016397.1:g.94440C>G , LRG_643:g.94440C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2102C>G MANE Select ENSP00000370737.4:p.Ser701Cys
ENST00000638233.1:n.537C>G
ENST00000638661.1:c.302C>G ENSP00000491369.1:p.Ser101Cys
ENST00000638694.1:n.289C>G
ENST00000639318.1:c.302C>G ENSP00000491932.1:p.Ser101Cys
ENST00000639364.1:n.1802C>G
ENST00000639443.1:n.1670C>G
ENST00000639954.1:n.1810C>G
ENST00000640505.1:n.341C>G
ENST00000321612.6:c.2102C>G ENSP00000370737.3:p.Ser701Cys
NM_000170.2:c.2102C>G , LRG_643t1:c.2102C>G NP_000161.2:p.Ser701Cys
NM_000170.3:c.2102C>G MANE Select NP_000161.2:p.Ser701Cys