Canonical Allele Identifier: CA372881173
Gene: GLDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556161T>C , CM000671.2:g.6556161T>C GRCh38
NC_000009.11:g.6556161T>C , CM000671.1:g.6556161T>C GRCh37
NC_000009.10:g.6546161T>C NCBI36
NG_016397.1:g.94532A>G , LRG_643:g.94532A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2194A>G MANE Select ENSP00000370737.4:p.Asn732Asp
ENST00000638233.1:n.629A>G
ENST00000638661.1:c.394A>G ENSP00000491369.1:p.Asn132Asp
ENST00000638694.1:n.381A>G
ENST00000639318.1:c.394A>G ENSP00000491932.1:p.Asn132Asp
ENST00000639364.1:n.1894A>G
ENST00000639443.1:n.1762A>G
ENST00000639954.1:n.1902A>G
ENST00000640505.1:n.433A>G
ENST00000321612.6:c.2194A>G ENSP00000370737.3:p.Asn732Asp
NM_000170.2:c.2194A>G , LRG_643t1:c.2194A>G NP_000161.2:p.Asn732Asp
NM_000170.3:c.2194A>G MANE Select NP_000161.2:p.Asn732Asp