Canonical Allele Identifier: CA372894211
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6595020-A-G
MyVariant Identifiers: chr9:g.6595020A>G (hg19) chr9:g.6595020A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595020A>G , CM000671.2:g.6595020A>G GRCh38
NC_000009.11:g.6595020A>G , CM000671.1:g.6595020A>G GRCh37
NC_000009.10:g.6585020A>G NCBI36
NG_016397.1:g.55673T>C , LRG_643:g.55673T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1255T>C MANE Select ENSP00000370737.4:p.Ser419Pro
ENST00000639364.1:n.955T>C
ENST00000639443.1:n.823T>C
ENST00000639493.1:n.407T>C
ENST00000639954.1:n.963T>C
ENST00000640592.1:n.1138T>C
ENST00000321612.6:c.1255T>C ENSP00000370737.3:p.Ser419Pro
ENST00000463305.1:n.339T>C
NM_000170.2:c.1255T>C , LRG_643t1:c.1255T>C NP_000161.2:p.Ser419Pro
NM_000170.3:c.1255T>C MANE Select NP_000161.2:p.Ser419Pro
Search 100 bp 5'
Search 100 bp 3'