Canonical Allele Identifier: CA372894222
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595025A>C , CM000671.2:g.6595025A>C GRCh38
NC_000009.11:g.6595025A>C , CM000671.1:g.6595025A>C GRCh37
NC_000009.10:g.6585025A>C NCBI36
NG_016397.1:g.55668T>G , LRG_643:g.55668T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1250T>G MANE Select ENSP00000370737.4:p.Ile417Ser
ENST00000639364.1:n.950T>G
ENST00000639443.1:n.818T>G
ENST00000639493.1:n.402T>G
ENST00000639954.1:n.958T>G
ENST00000640592.1:n.1133T>G
ENST00000321612.6:c.1250T>G ENSP00000370737.3:p.Ile417Ser
ENST00000463305.1:n.334T>G
NM_000170.2:c.1250T>G , LRG_643t1:c.1250T>G NP_000161.2:p.Ile417Ser
NM_000170.3:c.1250T>G MANE Select NP_000161.2:p.Ile417Ser