Canonical Allele Identifier: CA372883773
Community Standard Title: NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6540138C>G , CM000671.2:g.6540138C>G GRCh38
NC_000009.11:g.6540138C>G , CM000671.1:g.6540138C>G GRCh37
NC_000009.10:g.6530138C>G NCBI36
NG_016397.1:g.110555G>C , LRG_643:g.110555G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.2578G>C MANE Select NP_000161.2:p.Gly860Arg
ENST00000321612.8:c.2578G>C MANE Select ENSP00000370737.4:p.Gly860Arg
NM_000170.2:c.2578G>C , LRG_643t1:c.2578G>C NP_000161.2:p.Gly860Arg
ENST00000321612.6:c.2578G>C ENSP00000370737.3:p.Gly860Arg
ENST00000477960.1:n.42G>C
ENST00000638233.1:n.1013G>C
ENST00000638661.1:c.778G>C ENSP00000491369.1:p.Gly260Arg
ENST00000638694.1:n.765G>C
ENST00000639318.1:c.770-3902G>C ENSP00000491932.1:n.770-3902G>C
ENST00000639364.1:n.2278G>C
ENST00000639443.1:n.2146G>C
ENST00000639461.1:n.1679G>C
ENST00000639639.1:c.280G>C ENSP00000491312.1:p.Gly94Arg
ENST00000639954.1:n.2286G>C
ENST00000640505.1:n.817G>C