Canonical Allele Identifier: CA372880408
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6554772A>C , CM000671.2:g.6554772A>C GRCh38
NC_000009.11:g.6554772A>C , CM000671.1:g.6554772A>C GRCh37
NC_000009.10:g.6544772A>C NCBI36
NG_016397.1:g.95921T>G , LRG_643:g.95921T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2212T>G MANE Select ENSP00000370737.4:p.Cys738Gly
ENST00000638233.1:n.647T>G
ENST00000638661.1:c.412T>G ENSP00000491369.1:p.Cys138Gly
ENST00000638694.1:n.399T>G
ENST00000639318.1:c.412T>G ENSP00000491932.1:p.Cys138Gly
ENST00000639364.1:n.1912T>G
ENST00000639443.1:n.1780T>G
ENST00000639639.1:c.-87T>G ENSP00000491312.1:n.-87T>G
ENST00000639954.1:n.1920T>G
ENST00000640505.1:n.451T>G
ENST00000321612.6:c.2212T>G ENSP00000370737.3:p.Cys738Gly
ENST00000467946.1:n.138T>G
NM_000170.2:c.2212T>G , LRG_643t1:c.2212T>G NP_000161.2:p.Cys738Gly
NM_000170.3:c.2212T>G MANE Select NP_000161.2:p.Cys738Gly