Canonical Allele Identifier: CA263417
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56096
ClinVar RCV Id: RCV000049505
dbSNP Id: rs386833578
MyVariant Identifiers: chr9:g.6620205T>G (hg19) chr9:g.6620205T>G (hg38)
PubMed: PMID:15192636
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6620205T>G , CM000671.2:g.6620205T>G GRCh38
NC_000009.11:g.6620205T>G , CM000671.1:g.6620205T>G GRCh37
NC_000009.10:g.6610205T>G NCBI36
NG_016397.1:g.30488A>C , LRG_643:g.30488A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.449A>C MANE Select ENSP00000370737.4:p.Asn150Thr
ENST00000639020.1:c.44A>C ENSP00000491392.1:p.Asn15Thr
ENST00000639364.1:n.149A>C
ENST00000639840.1:c.155A>C ENSP00000491161.1:p.Asn52Thr
ENST00000639954.1:n.179-9849A>C
ENST00000640592.1:n.332A>C
ENST00000321612.6:c.449A>C ENSP00000370737.3:p.Asn150Thr
NM_000170.2:c.449A>C , LRG_643t1:c.449A>C NP_000161.2:p.Asn150Thr
NM_000170.3:c.449A>C MANE Select NP_000161.2:p.Asn150Thr
Search 100 bp 5'
Search 100 bp 3'