Canonical Allele Identifier: CA2902149
Gene: SLC30A9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.42001654A>G
GRCh37 chr4:g.42003671A>G
Revel Score:
ENST00000264451 (MANE Select) 0.028
gnomAD v2:
4:42003671 A / G
gnomAD v3:
4:42001654 A / G
gnomAD v4:
chr4-42001654-A-G
Joint Max Group AF 0.95279812 (EAS)
Genomes Max Group AF 0.93160068 (EAS)
Exomes Max Group AF 0.95317031 (EAS)
ClinVar Allele:
1323887
ClinVar RCV:
RCV001807817
ClinVar Variation:
1333130
dbSNP:
1047626
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42001654A>G , CM000666.2:g.42001654A>G GRCh38
NC_000004.11:g.42003671A>G , CM000666.1:g.42003671A>G GRCh37
NC_000004.10:g.41698428A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264451.12:c.148A>G MANE Select ENSP00000264451.6:p.Met50Val
ENST00000264451.11:c.148A>G ENSP00000264451.6:p.Met50Val
ENST00000510460.1:n.273A>G
ENST00000513699.5:c.148A>G ENSP00000423529.1:p.Met50Val
NM_006345.3:c.148A>G NP_006336.3:p.Met50Val
XM_011513620.1:c.148A>G XP_011511922.1:p.Met50Val
XM_017007654.2:c.148A>G XP_016863143.1:p.Met50Val
XR_001741095.2:n.298A>G
NM_006345.4:c.148A>G MANE Select NP_006336.3:p.Met50Val
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