Canonical Allele Identifier: CA372881171
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556160T>G , CM000671.2:g.6556160T>G GRCh38
NC_000009.11:g.6556160T>G , CM000671.1:g.6556160T>G GRCh37
NC_000009.10:g.6546160T>G NCBI36
NG_016397.1:g.94533A>C , LRG_643:g.94533A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2195A>C MANE Select ENSP00000370737.4:p.Asn732Thr
ENST00000638233.1:n.630A>C
ENST00000638661.1:c.395A>C ENSP00000491369.1:p.Asn132Thr
ENST00000638694.1:n.382A>C
ENST00000639318.1:c.395A>C ENSP00000491932.1:p.Asn132Thr
ENST00000639364.1:n.1895A>C
ENST00000639443.1:n.1763A>C
ENST00000639954.1:n.1903A>C
ENST00000640505.1:n.434A>C
ENST00000321612.6:c.2195A>C ENSP00000370737.3:p.Asn732Thr
NM_000170.2:c.2195A>C , LRG_643t1:c.2195A>C NP_000161.2:p.Asn732Thr
NM_000170.3:c.2195A>C MANE Select NP_000161.2:p.Asn732Thr