Canonical Allele Identifier: CA372894201
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6595015-T-G
MyVariant Identifiers: chr9:g.6595015T>G (hg19) chr9:g.6595015T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595015T>G , CM000671.2:g.6595015T>G GRCh38
NC_000009.11:g.6595015T>G , CM000671.1:g.6595015T>G GRCh37
NC_000009.10:g.6585015T>G NCBI36
NG_016397.1:g.55678A>C , LRG_643:g.55678A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1260A>C MANE Select ENSP00000370737.4:p.Glu420Asp
ENST00000639364.1:n.960A>C
ENST00000639443.1:n.828A>C
ENST00000639493.1:n.412A>C
ENST00000639954.1:n.968A>C
ENST00000640592.1:n.1143A>C
ENST00000321612.6:c.1260A>C ENSP00000370737.3:p.Glu420Asp
ENST00000463305.1:n.344A>C
NM_000170.2:c.1260A>C , LRG_643t1:c.1260A>C NP_000161.2:p.Glu420Asp
NM_000170.3:c.1260A>C MANE Select NP_000161.2:p.Glu420Asp
Search 100 bp 5'
Search 100 bp 3'