Canonical Allele Identifier: CA8501899
Gene: SLC35G3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.35194288T>C
GRCh37 chr17:g.33521307T>C
Revel Score:
ENST00000297307 (MANE Select) 0.054
gnomAD v2:
17:33521307 T / C
gnomAD v3:
17:35194288 T / C
gnomAD v4:
chr17-35194288-T-C
Joint Max Group AF 0.00005552 (NFE)
Exomes Max Group AF 0.00005805 (NFE)
ClinVar RCV:
RCV004165220
ClinVar Variation:
2324823
dbSNP:
771608573
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35194288T>C , CM000679.2:g.35194288T>C GRCh38
NC_000017.10:g.33521307T>C , CM000679.1:g.33521307T>C GRCh37
NC_000017.9:g.30545420T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297307.7:c.20A>G MANE Select ENSP00000297307.5:p.Tyr7Cys
ENST00000297307.6:c.20A>G ENSP00000297307.5:p.Tyr7Cys
NM_152462.2:c.20A>G MANE Select NP_689675.1:p.Tyr7Cys
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