Canonical Allele Identifier: CA372894217
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595023A>C , CM000671.2:g.6595023A>C GRCh38
NC_000009.11:g.6595023A>C , CM000671.1:g.6595023A>C GRCh37
NC_000009.10:g.6585023A>C NCBI36
NG_016397.1:g.55670T>G , LRG_643:g.55670T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1252T>G MANE Select ENSP00000370737.4:p.Leu418Val
ENST00000639364.1:n.952T>G
ENST00000639443.1:n.820T>G
ENST00000639493.1:n.404T>G
ENST00000639954.1:n.960T>G
ENST00000640592.1:n.1135T>G
ENST00000321612.6:c.1252T>G ENSP00000370737.3:p.Leu418Val
ENST00000463305.1:n.336T>G
NM_000170.2:c.1252T>G , LRG_643t1:c.1252T>G NP_000161.2:p.Leu418Val
NM_000170.3:c.1252T>G MANE Select NP_000161.2:p.Leu418Val