Canonical Allele Identifier: CA372886699
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 661629
ClinVar RCV Id: RCV000819084
dbSNP Id: rs386833530
MyVariant Identifiers: chr9:g.6645324C>T (hg19) chr9:g.6645324C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6645324C>T , CM000671.2:g.6645324C>T GRCh38
NC_000009.11:g.6645324C>T , CM000671.1:g.6645324C>T GRCh37
NC_000009.10:g.6635324C>T NCBI36
NG_016397.1:g.5369G>A , LRG_643:g.5369G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.176G>A MANE Select ENSP00000370737.4:p.Arg59Lys
ENST00000321612.6:c.176G>A ENSP00000370737.3:p.Arg59Lys
NM_000170.2:c.176G>A , LRG_643t1:c.176G>A NP_000161.2:p.Arg59Lys
XM_024447726.1:c.335C>T XP_024303494.1:p.Ser112Phe
NM_000170.3:c.176G>A MANE Select NP_000161.2:p.Arg59Lys
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