Canonical Allele Identifier: CA372881158
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556154T>G , CM000671.2:g.6556154T>G GRCh38
NC_000009.11:g.6556154T>G , CM000671.1:g.6556154T>G GRCh37
NC_000009.10:g.6546154T>G NCBI36
NG_016397.1:g.94539A>C , LRG_643:g.94539A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2201A>C MANE Select ENSP00000370737.4:p.Gln734Pro
ENST00000638233.1:n.636A>C
ENST00000638661.1:c.401A>C ENSP00000491369.1:p.Gln134Pro
ENST00000638694.1:n.388A>C
ENST00000639318.1:c.401A>C ENSP00000491932.1:p.Gln134Pro
ENST00000639364.1:n.1901A>C
ENST00000639443.1:n.1769A>C
ENST00000639954.1:n.1909A>C
ENST00000640505.1:n.440A>C
ENST00000321612.6:c.2201A>C ENSP00000370737.3:p.Gln734Pro
NM_000170.2:c.2201A>C , LRG_643t1:c.2201A>C NP_000161.2:p.Gln734Pro
NM_000170.3:c.2201A>C MANE Select NP_000161.2:p.Gln734Pro