Canonical Allele Identifier: CA372882036
Community Standard Title: NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6534726C>G , CM000671.2:g.6534726C>G GRCh38
NC_000009.11:g.6534726C>G , CM000671.1:g.6534726C>G GRCh37
NC_000009.10:g.6524726C>G NCBI36
NG_016397.1:g.115967G>C , LRG_643:g.115967G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.2901G>C MANE Select NP_000161.2:p.Glu967Asp
ENST00000321612.8:c.2901G>C MANE Select ENSP00000370737.4:p.Glu967Asp
NM_000170.2:c.2901G>C , LRG_643t1:c.2901G>C NP_000161.2:p.Glu967Asp
ENST00000321612.6:c.2901G>C ENSP00000370737.3:p.Glu967Asp
ENST00000477960.1:n.482G>C
ENST00000638233.1:n.1336G>C
ENST00000638274.1:c.53G>C
ENST00000638661.1:c.1101G>C ENSP00000491369.1:p.Glu367Asp
ENST00000638694.1:n.1088G>C
ENST00000639318.1:c.1005G>C ENSP00000491932.1:p.Glu335Asp
ENST00000639364.1:n.2601G>C
ENST00000639443.1:n.2469G>C
ENST00000639461.1:n.2002G>C
ENST00000639639.1:c.603G>C ENSP00000491312.1:p.Glu201Asp
ENST00000639954.1:n.2609G>C
ENST00000640505.1:n.1140G>C