Canonical Allele Identifier: CA263299
Gene: GLDC HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.6588688G>C
GRCh37 chr9:g.6588688G>C
Revel Score:
ENST00000321612 (MANE Select) 0.916
gnomAD v2:
9:6588688 G / C
gnomAD v4:
chr9-6588688-G-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000049455
RCV003988826
ClinVar Variation:
56046
dbSNP:
386833527
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6588688G>C , CM000671.2:g.6588688G>C GRCh38
NC_000009.11:g.6588688G>C , CM000671.1:g.6588688G>C GRCh37
NC_000009.10:g.6578688G>C NCBI36
NG_016397.1:g.62005C>G , LRG_643:g.62005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1595C>G MANE Select ENSP00000370737.4:p.Thr532Arg
ENST00000639364.1:n.1295C>G
ENST00000639443.1:n.1163C>G
ENST00000639954.1:n.1303C>G
ENST00000640592.1:n.1478C>G
ENST00000321612.6:c.1595C>G ENSP00000370737.3:p.Thr532Arg
NM_000170.2:c.1595C>G , LRG_643t1:c.1595C>G NP_000161.2:p.Thr532Arg
NM_000170.3:c.1595C>G MANE Select NP_000161.2:p.Thr532Arg
Search 100 bp 5'
Search 100 bp 3'